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Key points Differential diagnosis of chronic red cell aplasia in children + Congenital red cell aplasia (Diarnond-Blackfan anemia) © Chronic parvovirus B19 viremia + Immune-mediated pure red cell aplasia ‘+ Other congenital syndromes af bone marrow failure Differential diagnosis of red cell aplasiaiin infancy ‘+ Congenital red cell aplasia (Diamond-Blackfan anemia) + Early presentation of transient erythroblastopenia of childhood + Congenital parvovirus B19 infection ‘+ Alloirnmune erythroid hypoplasia (maternal anti-Kell) Practice point Bone marrow transplant in Diamond-Blackfan anernia: * Itis.essential to exclude subclinical or mild DBA in sibling donors Table 5.3 Tactors affecting iron adsorption of nonhemeiron from the \gastreintestinal tract. Increased absorption Acids Vitamin C Hycrociiorc acist ‘Ssoluzes Sugars Amino acids (meats) Decreased absorption Alkalis Antacids Pancreatic secrstisns Hypochboil yeltie: Precipitating agents (vegetzbles) Phytates Phosphates Table 5.4 Sequence of detectable reduction in ton stores as iron deficiency anemia develops. 1 Serum ferritin Reduced iron stores 2 Plasma transferrin receptor 3 Plasma iron 4 Total iron-binding capacity 5 Marrow sideroblast percentage 6 Red blood cell protoporphyrins 7 Red bhood cell morphology Iron deficiency anemia Table 5.10 Etiology of iton overload. Increased gastrointestinal absorption Hereditary hemochromatosis Erythroid hyperplasia with ineffective erythropoiesis B-Thalassernia major B-Thalasseris intermedia Hemoglobin E/B-thalasseria ‘Congenital dyserythropoietic anemias Pyruvate kinase defidency ‘Sideroblastic anemias Atransferrinemias and other rare disorders of iron transport ‘Repeated red cell transfusions Perinatal non overload Hereditary tyrosinemia (hyperrrethioninernia) Zellveger syndrome cerebrohepatorenal syndrome) ‘Neonatal hernochromatosis Focaliron sequestration Table 5.6 Common causes of hypochromic microcytic anemia related to ‘stage af childhood. (Neonatal period: iron deficiency unlikely Rest of childhood: iron deficiency mast cammen cause Infancy and early childhood Dietary Prematurity Low birthweight Later childhood Dietary Bleeding Puberty Dietary Bleeding Increased demands: (i) menstruation; (ii)each 1 kg of weight gain. = 80 mL blood and requires 45 mg of iron Table 5.14 Complications of iron overload and the effect of chelation therapy. Effect of chelation therapy Reversibility of ‘Complication Protection established disease Liver Yes Yes Heart Yes Yes Endocrine Growth ves ves Hypogonadism Yes No Diabetes mellitus Yes No Hypothyroidism Yes No Hypoparathyroidism Yes No Arthropathy Unknown, Infections No Yersinia seen with chelation therapy) Table 6.1 Acquired causes of cobalamin deficiency. Nutritional Matemal deficiency ‘Vegan Pemiciousanernia Total or subtotal gastrectomy Intestinal Stagnant loop syndrome ileal resection Fish tapeworm ‘Chronic tropical sprue Malabsorption of cobalamin occursin the following conditions but the deficiency is not usually sufficiently severe to cause megaloblastic anemia Gluten-induced enteropathy Cystic fibrosis and chronic pancreatitis Crohn disease uncomplicated by resection or stagnant loop Drugs: slow K, phenformin, metforrrin, cholestyramine able 8.2 Characess ol ec antboes Paroxysmal old :afommunatonclc ama Warm AHA Coldaggutinindiease —hemoglbiowia . ue Irena 6 co 6 Therralentvy ra oa Fees Comper ert Varo 1% ws tec argu est a - - Go ane wees a Action spectatly Rh ui P ‘Siteof veda destruction Extravascular — Extravaseulir Invavasculr Intravascular xtravzscubr Therapy, Comenstersids Avoidance of colt dvpidance of ci ‘Ant-COD) — Warmbloadtortranstuson Warr blood for transtusion Splenecoy Cortese Table 6.2 acquired causes of folate de“iciency. Mubitioned Inecequate poor-quality diet goats’ mi: Spreial iets Seung Adalahroration ‘Gimten induced. Tropical yprue Jejus ial ese bom Systemic intections dscreaseu sepuinenrnosnis Preynancy. prerriaturily (Conditions win increased cell tumover Hemolytic avemias Widespreed sion andother injiammatory disezses, eg Thihemuinss, matana Raalignans riieeasrs, buezss toss (Rennie chiatysrs, ana Anticnmmikkants, triemterene, silfasalazine Alcohal dner asencer Table 7.2 Hematoicaic causes of hydops fetal. impared red cell production Parvovirus B19 infection Diamond Blackfan anemia ‘Congonital dyse"ythropoie“k snorr tes ‘Congonital leukernla incroased rod col) destruction Immune hemolysis: Rh and Kell Thalassemia mayor Pyruvate eimase deficezacy (Gluccee pnosahate iscerasc defacney oy thalassemia Rote unetable o. chain yaricnts foo joss Iwineto-twin Rranstusion syndrome Vetomatemal hemorrhage Table 8.4 Clinical and laboratory features of immune hemolysis due to Rh disease and ABO incompatibility. Rhdisease ABO Incompatibility Clinical features Frequency ‘Unusual ‘Common Pallor (Marked Minimal Jaundice (Marked Minimal to moderate Hydrops ‘Common Rare Hepatosplenomegaly Marked Minimal Laboratory features Blood type Mother Rho ° Infant RhG) AorB Anemia ‘Marked Minimal Direct Coombs test Positive Frequently negative Indirect Coombs test Positive Usually positive Hyperbilirubinemia Marked Variable Red cell morphology ‘Nudleated cells Spherocytes ‘Table $.8 Characterstes of he perp Dede Nearer eres Stinson Age at presentation lnhetance ct phys ALAR dingy orp + - Aap AR Auto pts + - ‘exon ord eae 0 ea cpepcpyta + * ith cate 0 teat port e ‘ elorepubery aD Catanecs porpris Congenital enthrpelteporhyra . ‘ Beloreage | wR Erytcple grep - + ‘Cth beled a Pepto peep - + ay cited an fephrncirentidh - + eto pan vale Table 10.5 Types ot cirkie events hypesciensmwnfection Anema Hemneiytic Aplastic Anema of chronicdisesse se q.. rena| fellure) Acute chest syndrome (Chronic hing diseasepimonary hypertenier Heart Ee Roney, ‘Konal conceswaung defecucnuress Preteinuinia Acute renal Failure Che oni neta! Faibare Pracem Leg ulcers Cerebral Stroke Siler in ‘are tio Neurocogn tive disorders ety Investigations Froquenty ‘Aloraton in therapy Hightequency suciogram ‘Yea itpatent samptomate, —_temapt OFD ernecatey serscrnewl meet easaesiment ect ase body ron burden hese, Discontinue OFO x manta HC 3.2-7 gy ey wt ie Fepeat audiogram every 3 months uti noanaor stable ‘djs DFO To WC ace Table 15.23, Retnaleormsines Ratna examination Yea patent symptomatic, nemapt FO enecatey merece easement recy aes ey re Baden ‘comme DFO = monet ¥9C:3 2-7 mag aro rer se esa every 2 ments unl normal or sabe ‘dst DFO 10 ane Table 15.2) Meupnpsal andsginal — Rachography ofwreis, Yearly educa F0 1028 my daly ncek senormalties lees, thoacoumtt: rect aces by rebar socal spine scone DFO xtémantt f¥9C 3 mg dry weight her tae one ageotanet eacies WC afer 6 months Ads DFO TOW, ee Table 15.2 Decine nheightveodty —Deterinaional sting Twice ear [Asformelaphyseal and spinal abroatties andorstingheght ——andstandng heights Regular (month assessment by pediatric endocincogst ‘Table 14.3 A surmmary of the signs and symptoms of Wiskott-Aldrich syndrome. ‘Neonatal onset ‘Thrombocytopenia possibly exacerbated by increased platelet.consumption Early childhood onset Eczerra, colitis, susceptibility to pyogenic (bacteria and opportunistic (viral, PCP) infections Lymphopenia, abnormal B-cell function with reduced IgM and elevated igh ntine Table 14.11 Examples of acquited neutropenias. lates rally ‘Neutropenia as the only or dominant cytapenia Infections: viral, bacterial, fungal, rickettsial and protozoal Orgs Tat immune Sy) Neonatal alloimmune neutropenia (Org Frimary autoimmune neutropenia of infancyand cidhood ‘Skin Clo Nestopeniaas part pancytopenia Acquired marrow failure du to decreased proliferation of progenitors in the bone marrow, e.g, aplastic anemia, arrow infiltration Nutritional deficiency, e.g, vitanin Band folate deficiency Splenic sequestration Table 14.11 Bamples of acquired neutropenias. Neutropenia as the only or dominant cytopenia Infections: viral, bacterial, fungal, rickettsial and protozoal Drugs iremune Neonatal alloimmune neutropenia Primary autoimmune neutropenia of infancy and childhood autoimmune neutropenia Nutrition: anorexia nervosa, copper deficiency Chronic idiopathic the bone marrow, e.g., aplastic anemia, marrow infiltration Nutritional deficiency, e.g. vitamin 8, and folate deficiency Splenic sequestration ‘Table 15.4 Diagnostic criteria for hemophagacytic lymphohistiocytosis.* ‘inical Fever Hepatosplenomegaly Laboratory “Hematologic ‘Cytopeniias (more than two of three lineages in peripheral blood) Hemophagacytosis ‘Biochemical Hypertrighyceridemia (fasting triglycerides 2 2 mmol/L or: 35D ‘above normal) Hypofibrinagenemia (= 1.5 g/L or < 35D below normal) mogene Immunologic Lowor absent natural killer cell function Bevated soluble C25 serum levels Addivonal ‘Molecular demonstration of known gene mutation Presence of farndlial disease = Diagnosis requires five of the eight clinical and laboratory crtteria or the identification ef specific gene mutations or presence of familial disease. Table 14.10 Classification of congenital neutropenias Neutropenia as part of congenital hone marrow failure syndromes, 2.9, Fanconi anemia, dyskeratosis congenita ‘Congenital neutropenia in association with defects of adaptive immunity ‘Severe combined immune deficiency (SCID) and reticular dysgenesis 2clinked hypogarnmagiobulinernia Hyper-igM WHIM syndrome and myelokathexis Leukostasis(e.g., priapism) Gout Splenic infarction, Table 18.1 Conditions associated with the development of, imyelodysplasia in childhood. i ‘Congenital disorders Downsyndrome Trisomy 8 Neurofibromatosis type 1 ‘Congenital bone marrow disorders Fanconi anemia ‘Congenital neutropenia including Kestmann syndrorre Diamond-Blacktan anemia ‘Shwrachman-Diamond syndrome Familial MDS Acquired disorders Aplastic anerria with previous iim unosuppressive therapy Previous.cytotoxic or radiation therapy Table 18.4. Diagnostic citeria for myelodysplastic syndromes in children 22 Atleast two of the following must be present: Blood oytopenia Bilineage dysplasia Excess of blasts (65%) in bone marrow Cytogenetic clone in bone marrow Diagnostic criteria for iMnat** Essential Monocytosis > 1x 1087L Bane marrow blasts < 20% Absence of i(9:22) Plus two from: White blood cell count > 10x 10°. ‘Myeloid precursors on blood film Cytogenetic clone in bone marrow ‘Spontaneous growth of CFU-GM in vitro Table 19.4 Clinical staging of HIV-related disease in chikiren. Category Features n Asymptomatic 8 Moderately sym ptoratic Single episode of a severe bacterial infection Lymphocytic interstitial pneumonitis. ‘Anemés_ neutropenia, thrombocytopents (Cardiomyopathy. nephropathy, hepatitis. diarrhea (Candigiass, severe varicella zoster or herpes simplex virus c ‘Severely symptomatic ‘Two serious bacterial infections Encephalopathy (acquired microcephaly, cognitwe delay, abnormal neurology Wasting syndrome (severe failure to thrive or “dow rmaed-crassing two weight cenbies! {rable 28 11 Ppa intr nthe Peay gr nde yeti cee = = Surmenltnsceneiereneaen| Use mordaahe crmenel rane ow acne tereblayre en Person ge Pa) om - wecarncnoe pearaea, Taea Compr ac ees Table 23.3. Staging due to platelet count and clinical manifestation and intervention guidelines in children with irrmnune thrombocytopenic purpura, Stage Symptoms Platelet count Management ocr) 1 ‘Normal daily life 220-150 ‘Consent for observation 2 Troublesome bleeding > 10-20 —_-Punctual intervention to reach stage 1 3 Bleeding, Lherroglabin <20 Intervention Table 23.7 Routine testingin addition to initial laboratory analysis in chikdren ‘with persistent immune thrombocytopenic purpura of 3-6 months” duration. ‘Bone marrow analysis, endocrine function, urine analysis, abdominal ultrasound Antinuclear antibody, direct antighobin, lupus anticoagulant, platelet ‘antigen-specific antibodies, serum immunoglobulins with IgG subclasses, platelet function test, coagulation studies Viral serology (HIV, CMV, EBV, VZV, rubeols, parvovirus 819 and others) Table 23.10 Standard treatment modalities for chikren with immune thrombocytopenic purpura. Intravenous immunogiabulin (1V1G) Initial teatment: 0.8 g’kg once, Repeat the same dose if platelet count is -< 30% 10°A on day 3(72 hours after first infusion) Inemergency bleeding: 1-2 times.0.8 g/kg, eventually together with ‘corticosteroids and platelet transfusion Treatment in chronic IP: 0.4 g/kg, once every 2-Bweeks Corticostro Prednisone 4 mag daiy orally o intravenously for 7 days, then tapering ‘over a 7-day period Inemergency bleeding: methylprednisolone 812 mg/kgiv, or dexamethasone 0.51.0 mgkg iv. or orally, together with MIG platelet transfusion ‘Anti-Rh(D) antibody SO yg/kgiv. Table 25.1. Characteristic clinical features that differentiate primary hemostatic disorders from coagulation disorders. Primary hemostatic Coagulation disorder disorder Protatypic disorders Thrombocytopenia, platelet Hemophilia function disorder, von ‘Willebrand disease™ Bleeding Innmrediate Delayed Petechise Yes No Hemarthroses ‘No Yes: Intramuscular hematomas Uncommon Common Epistanes, ‘Common Uncommon Menorthagia ‘Common Uncernmon ** In the uncomrron type 3 von Willebrand disease, the factor Villlevel is low enough for the clinical features to be those of a combined primary Table 25.3 Causes of acquired platelet function defects Drugs and other causes Urerria laceration requiring sutures Desired plasmalevel after treatment 10086 rae +commrence 100% rea +commrence 50-70% and tranenaric acd 508% and tanenaric acd 405 unl stures reroved High thd ita 4 50% Table 26.1 Bleeding rartfestations with diferant sevens of hereapha A and 8. ‘Table 26.2 Treatrent of speatic bleeds: Duration of ested facioclevelsinplasaafter treatment ‘treatment see note Seencte Table 23.12 Treatment options in refractory immune thrombocytopenic purpura (see text for dosage and other details). Current treatment options Vinca alkaloids Azathioprine Cyclophosphamide Cyclic high-dose corticosteroids Danazol Fiasrr apheresis or protein Aimmunoadsorption ‘Ascorbic acid (vitamin C) Splenectomy Recent treatment options Treatrrentinfluencing antigenemia Treatrrentinfluencing the T-cell immune response: cidosporin, CTLA-4-1g Treatrrentinfluencing the B-cell immune response: ant-CD20 monoclonal antibody (rituximab), anti-CD52 monoclonal antibody (alerituzumat), interferon-ct (ther options: thrombopoietin, astolagous hematologic stem call transplantation ‘Type of vWD. Definition and prevalence “Type 1 (~809) Partial quantitative deficiency of normal von ‘Willebrand factor (vWF) ‘Type 2 (~20%) ‘Qualitative defects of VWF Type 2A ‘Qualitative variants with decreased platelet- dependent function associated with the absence of high-molecular-weight multimers Type 28 ‘Qualitative variants with increased binding affinity for platelet glycoprotein Ib Type 2M Qualititative variants with decreased platelet- ‘dependent function associated with normal VWF multimer pattern Type 2N ‘Qualitative variants with reduced binging of FVII Type 3 WO (prevalence Complete absence of VWF =1 per million), Table 27.3 Clinical definitions of asignificant bleeding trait. Recurrent nosebleeds requiring medical treatment (packing, cautery, desmopressin, etc.) orleading to anemia Oral cavity bleeding lasting for at least 1 hour, restarting over the next 7 days or requiring medical treatment Bleeding from skin lacerations lasting for atleast 1 hour, restarting over the next 7 days or requiring medical treatment Prolonged bleeding associated with, or following, dental extraction or other coral surgery ‘Menorthagia requiring medical attention or leading to anemia ‘Spontaneous gastrointestinal bleeding requiring medical treatment or leading to anemia, unexplained by local causes Prolonged bleeding from other skin or rrucous membrane surfaces ‘Table 28.1 Chracerctcsf compute factonand he decency tates Pasa Chromosomal Molecular Wo. of chains ‘concentration Wo. af Gla No.of dascribad ‘Homastatic levels tection smass(kDa) (acthod Halfite gin domains mutations, Provalonce (4 otarence ranged mo a 2 2 Ath os 0 210 Vin S00000 15-20 ” #2 won 0 ne teteaen 15.20 a " Rn 2 acy 10 0 “ Vn2miion 20-30 w 1 m wh ” - *® Veteiion 1525 rem GCS 18 BOR) 10M Bh 10 SIS EERGK) Vinton 15-20 MCFD 2 00K) 2b YOstab IFA 01 vb SOMCRDE ma 4 wR Sho - Vatedon 1520 FING gored 6(AchaRh 320 4 Vedas - a Vin2edion 2.5 1h chad Fivioges laRrd DE 24d am solemn) Nin tmilon sormgth fipee) re) 30a) sean) ‘theta ype ‘ctl mulpecongenta ES pes UA Eb 00a » Domaiogarastipe Haran dematnprat ES ipa KC) mean a ‘tha eers eid ES D5 pV ND 4 Feds type EDS type Vill pi) Cy ‘Abronecter defend EDS DS typed nat ' fami perlite 405 ype x ec) wo Froged EDS 0070 r Uma ers . aba 18 Cates ala a De rr tat cone WP) eect a we oa a ptt Uorciwehoe fate Coit NO gate tage nc oetning, cng pean Fra macrtingig, oc, fiscal ctu “ora Reauepeyrautanetantare Dorr rae ‘Tk ot conga at) ‘Teh ith crates tamed ‘Teh ih cope Date apr beegpree Table 30.9 Inherited thrombocytopenia classified by platelet size. ‘Small platelets Weskott-Aldrich syndrome: 2clinked thrombocytopenia Normal platelets Congenital amegakaryacytic throrrbocytopenia Amegakaryocytic thrombocytopenia with absent radii, Familial platelet disorder/acute myeloid leukaernia Thrombocytopenia with radioulnar synostosis Large platelets MYH-9 related disease Gray platelet syndrome Paris-Trousseau thrombocytopenia Jacobsen syndrome Table 32.11 Suggested guidelines for platelet transfusions in neonates. Platelet count < 30 x 10°/L in a neonate with neonatal alloimmune thrombocytopenia Platelet count < 30 x 10/1 with failure of platelet production Platelet count <'50 x 10°/L in a stable preterm infant* with active bleeding prior to invasive procedure with failure of platelet production Platelet count < 100 x 10°/L ina sick preterm infant:* with active bleeding prior to invasive procedure with disseminated intravascular coagulation Table 32.6 British guidelines for RBC transfusion thresholds for infants under 4 months of age. ‘Anemia in the first 24 hours Hb 12.0.g/dl (Hct 0.36) ‘Cumulative blood loss in 1 week, 10% blood volume neonate requiring intensive care Neonate receiving intensive care Hb 12,.0.g/dL Acute blood loss 109% blood volume Chronic oxygen dependency Hb 11.0.g/dL Late anemia, stable patient Hb 7.0 g/d. Table 32.4 Choice of ABO blood groups for red blood celll (RBC), plasms and platelet transfusions in children. Acceptable ABO group of blood component to be transfused Recipient blood group, RECs Plasma _——Plattelets* ° First choice ° ° ° Second choice None ABB AB, AB A First choice A x a Second choice AB AB 2 First choice e 8 a Second choice AB ae aa First choice AB AB ag Second choice 4B, None. See footnote + The choices of ABO blood groups for RAC transfusion may not be appropriate for newborns and infants ~ 4 months of age in whom the potential presence of maternal anti-A/B must also be considered. + In ernergency situations platelets in plasma with 4/2 antibodies against recipient 4B antigens may be transfused. However, where possible such units should not be used unless the ant-A/B is of low titer and/or the plasma. fect ern ee tates tenninetnent treet nense cd noncene © Table 29.4. Causes of disseminated intravascular coagulation in-children. Infection ‘Malignancy. e.g., acute leukemia ‘Trauma, e.g, head injury, burs (Organ destruction, e.g... acute pancreatitis, ‘Severe immune reaction, e.g... ABC-incor patible blood transfusion Hepatic failure Vascular abnormality, e.g., Kasabach-Merritt syndrome SS SSS es v 1. Second most comman neoplasm of chitthood, after lecemia 2. Older chiadres (>1 yaar: Most tumors ark intatentaial (cérebelar ox beanstars) Younger chiiren (<1 year): Mast tumors are supratentavial 4. Gold standard for diagnosis: Magnetic resonance imaging with and without gadotiniam entancement 5. Back pain, extremity weakness, and/or bowel and bladder dystunction suggestive ot spinal Cond lesions or metastases KEY POINTS: ACUTE LYMPHOBLASTIC LEUKEMIA 4, Most common childhood malignancy 2. Increased risk: Patients with Down syndrome, congenital immunodeficiency syndrome, exposure to ionizing radiation: sibling of patent with acute lymphoblastic leukemia 3. Chemotherapy phases: Induction (to achieve remission), delayed intensification, maintenance 4. Survival (it in standard risk group) =80% at 5 years alter completion of therapy 5. Most common sites of relapse: Bone marrow, central nervous system, testis Se eS) 1. Most common pediatric extracranial solid tumor 2. Most common malignant tumor among infants 3. Majority of children <4 years old 4, Poorer prognosis: >1 year old, metastatic disease, Myc-N amplification 5. Most metastatic at diagnosis 6. Paraneoplastic syndromes: VIP syndrome (diarrhea as a result of increased vasoactive ‘intestinal peptide), opsoclonus-myoclonus (“dancing eyes, dancing feet"), and catecholamine ‘excess (with flushing, sweating, headache, hypertension) Table 30.7 Classification of fetal and neonatal thrombocytopenias. Fetal Early-onset neonatal (<72 hours) Late-onset neonatal (272 hours) Alloimmune Congenital Infection (e.g., CMV, Toxoplasma, rubella, HIV) Aneuploidy (¢.g., trisomies 18, 13, 21 ortriploidy) Autoimmune (€.g., ITP, SLE) Severe Rhesus disease Congenitalinherited (e.g., Wiskott—Aldrich syndrome) Placental insufficiency (e.g., PET, IUGR, diabetes) Perinatal asphyxia Perinatal Infection (e.g., Escherichia coll, GBS, Haemophilus influenzae) Disseminated intravascular coagulation Alloimmune Autoimmune (¢.g., ITP, SLE) Congenital infection (e.g. CMV, Toxoplasma, rubella, HIV) Thrombosis(e.g., aortic, renal vein) Bone marrow replacement (e.g., congenital leukemia) Kasabach—Merritt syndrome Metabolic disease (e.g. propionic and methyimalonic acide Congenitalinherited (e.g., TAR, CAMT) Late-onset sepsis: Necrotizing enterocolitis Congenital infection (e.9., CMV, Toxoplasma, rubella, HIV) ‘Autoimmune Kasabach-Memritt syndrome Metabolic disease (e.g., propionic and methylmalonic acide Congenitalinherited (e.g., TAR, CAMT) U.S. white children 1 in 2800 Siblings of a child with leukemia. Tin 700 Identical twin of a child with leukemia Tins Children with: Down syndrome 1in 75 Fanconi syndrome 1in 12 Bloom syndrome rink Ataxia-telangiectasia Tink Exposures: Atom bomb within 100 m 1 in 60 2 Tin 960 Alkylating agents. 1 in 20007 OES a PROGNOSIS OF PATIENTS WITH ACUTE LYMPHOBLASTIC LEUKEMIA Age: <1 year and >10 years White blood cell count: >50,000/mm? Chromosomal translocation abnormalities, specifically t(8:14), t(9:22), and t(4:11) Hypoploidy (<45 chromosomes) Malignant cells, with mature B-cell or T-cell immunophenotyping Central nervous system involvement Black and Hispanic patients Px eer ens Males TABLE 15-2. Table 30.6 Conditions associated with neonatal disseminated intravascular coagulation. Fetalineonatal disorders ‘Hypoxia—acidosis: birth asphyxia, respiratory distress syndrome Infection Meconium aspiration Aspiration of amniotic fluid Necrotizing enterocolitis Brain injury ‘Hypothermia Hemolysis Giant hemangioma (Kasabach-Merritt syndrome) Homozygous protein C/S deficiency Malignancy Matemalobstetric disorders ‘Severe preeclampsia Placental abruption Intrauterine death CANCERS MOST COMMONLY ASSOCIATED WITH A SECOND Pie) Primary Turnors: Secondary Tumors Retinoblastoma ‘Osteosarcoma Pinealoblastoma Hodgkin disease Acute nonlymphoblastic leukemia Non-Hodakin lymphoma ‘Sarcoma (in radiation field) Thyroid carcinoma Breast carcinoma (jin radiation field) Acute lymphoblastic leukemia Brain tumors Sarcomas Non-Hodgkin lymphoma. ‘Sarcomas aa Ea COC SE aaa Eight or more new ear infections within 1 year . Two or more serious sinus infections within 1 year . Two or more months: on antibiotics with little effect . Two or more severe pneumonia infections within 1 year . Failure of an infant to gain weight and grow normally Recurrent deep skin or organ abscesses Persistent thrush in mauth or elsewhere on skin after 1 year of age Need for intravenous antibiotics to clear infections ‘Two or more deep-seated infections such as meningitis, osteomyelitis, cellulitis, or sepsis Seernonenwonen A family history of primary immunodeficiency KEY POINTS: THALASSEMIA 1, Normal hemoglobin (HDA): Tetramer of two a and two (5 chains 2. Associated with quantitative reduction in globin synthesis. Homozygous B-thalassemia is most severe form with pallor, jaundice, hepatosplenomegaly, ‘growth retardation . Expansion of facial bones resulting from extramedullary hematopoiesis . Severity of erthalassemia depends an number of genes deleted (1 ta 4) . o-Thalassemia: More comman among people of Southeast Asian ethnicity BrThalassemia: More common in people of Mediterranean ethnicity e Neos 1. The introduction of whole cow milk before the age of 1 year increases risk as a result of occult gastrointestinal bleeding 2. Red blood cell distribution width is increased because deficiency results in uneven ted blood cell size (anisocytosis) 3. Low levels of ferritin indicate diminished tissue iron stores. 4, This condition impairs cognitive development in infants. 5. Absence of anemia does not exclude the possibility of iron deficiency. Iron depletion is relatively advanced before anemia develops. eT eMC CLS e0 el ws ee Ug ee Factor V Factor Vil Factor VIII Liver disease Low Low Normal or increased Vitamin K deficiency Normal = Low Normal Disseminated intravascular coagulation Low Low Low 1. § ome mutton ede oan anon! fotain cain 2. Eight percent of African Americans have the sickle cell trait. 3. Crises include vaso-occiusive, sequestration, and aplastic. 4. The risk for serious bacterial infection is increased among these patients as a result of functional asplenia. 5. Dactylitis (painful hand and foot swelling) is often the earliest manifestation. CO) Test Usual Results Prothrombin time; activated partial thromboplastin time Prolonged Fibrinogen -<100 mg/d* Platelet count Low o-Dimer >2no/mL Factors Il, V, and VIII Usually low" Li ea 1. Hemophilia A: Factor Vill abnormalities (75% to 85% of total cases) 2. Family history is not always positive; up to one third of cases of factor VIII deficiency are caused by a spontaneous mutation 3. Hemophilia B: Factor IX abnormalities 4. Severity based on factor levels: Severe (<1%), moderate (1% to 5%), mild (5% to 25%) 5. Common initial presentation: Bleeding after circumcision Compt Fendominart Cal Deller Agno ued Heelers at tay any dey leapceir! (uly 240) Tape itt Grit ce range ut, pricy CVT ae] Grappa Stati (evcapuiaed)bacera, (BN systemic BOG ater acer cause ptt essa oop: Gut, ci ap, guy, egy Cpr, Fovunceys cat Asperghs Conpyitacty, etree (kl gn Fart iy th ni Proud alg, ind an, rt, rl ana; ras is ag. teat, rabbi: ts cat: spt a epotnse ts. pei abscess; angeetera; larga inane granada wap ed ts, iv: yeoman; spr ei ses renege eptaroenty eves; wats; inten itn di otis ‘blader oaiet obstruction UA SR 0 1. Failure to thrive 2. Persistent cough 3. Persistent candidiasis 4. Absolute lymphocyte count <2000/mm? aT TST Nh Type | Type IIA Type IB Type IN Frequency G5 %-00% = 10%12%4 SS 1-3 Genetic Autosomal Autosomal Autosomal Autosomal ‘transmission dominant = dominant dominant dominant Pistocetin Low Low Low Normal cofactor activity Low-dose Normal Normal Increased Normal tistocetin- induced platelet ‘aggregation Multimeric Normal mix Large, Large multimers Multimers electrophoretic (various intermediate absent normal pattern silts) forms absent Response to Good Poot Decreases Ralges ow desmopressin platelets factor Vill TABLE 9-1. COMMON CAUSES OF PROLONGED PROTHROMBIN TIME (PT) AND ACTIVATED PARTIAL THROMBOPLASTIN TIME (aPTT) Scenario Common and Important Causes Comments Prolonged PT Vitamin K deficiency Isolated PT elevation is sensitive Liver disease marker early in DIC Warfarin development Factor VII deficiency Disseminated intravascular coagulation (DIC) Prolonged aPTT Von Willebrand disease Rare deficiencies of factor XII, Hemophilia (factor VIII, IX, or XI congenital abnormalities of deficiency) ‘the receptor for vitamin Byo- Heparin intrinsic factor complex Antiphospholipid antibodies Gastric mucosal defects that (associated with minor interfere with the secretion of infections or, rarely, intrinsic factor or autoimmune or phosphokinase may also thromboembolic disease) elevate aPTT but are not Clinically significant Half of children with prolonged aPTT do not have a bleeding disorder Prolonged PT Heparin Fibrinogen measurement can and aPTT Warfarin help distinguish among liver Liver disease disease and DIC (decrease DIC in fibrinogen) and vitamin K (no decrease in fibrinogen)

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