In the name of god

Case reports k.Goudarzipour Pediatric congenital hematologic disorders research center Shahid beheshti university of medical science .Tehran.Iran

Case 1 The neonate is a 2-day-old with chief complaint of generalize edema. His mother has had 2 abortions. Blood group of mother and her child: O positive . Negative Hx of transfusion in pregnancy,but his mother hasn’t had suitable care in pregnancy.

WBC;13,000.p:70,L:26,Eo:4 RBC:3 Hb:9 HCT:27 MCV:105 MCH:32 MCHC:34 PLT:380,000 RDW:14 MPV:10

What is your DDX?

What additional labs Do you recommend ?

Other lab data in this patient: Retic:18% LDH:2300 Bil:14, Indirect:12 Coombs test:Negative What additional data do we need?

G6PD:NL Pyruvate kinase: decrease

ImportanCe of pbs Star cell: pyruvate kinase deficiency

IMPORTANCE OF pbs

Trisomy 13

mucopolysacaridosis

Case 2 The patient is a 2.5-month-old with chief complaint of pallor. Lab data is shown as below: WBC:5600, P:30, L:70 RBC:2.4 Hb:6.9 MCV:84 MCH:29 MCHC:31 PLT:170,000 RDW:17 MPV:9

What additional labs do you recommend and what are DDX?

Retic: 0.3% PBS: Anisocytosis Hb A: 42.3% F:54% A2:3.7%

BM aspiration:Ring sideroblast with moderate decrease in erythroid series ADA: Increased Goudarzipour formula for Hb F: 70-3(Age based on week-2):46 His father has minor thalassemia with only increased A2

Hand abnormality (three phalanges thumb)

Diamond blakfan Anemia + minor thalassemia

Case 3 The patient is a 3-month-old term boy with cc of pallor. WBC:7300 RBC:2.4 Hb:6.6 HCT:21 MCV:53 MCH:23 MCHC:24.5 PLT:175,000 RDW:19

Retic:12%, corrected Retic: 7% Electrophoresis & HPLC : Normal Supravital staining: Golf ball negative.

Microcytic RBCs Polychromasia Bizarrely shaped cells with fragmentation, poikilocytes, pyknocytes, and microspherocytes

Parents’ CBC: microcytosis in his father with normal electrophoresis

Increased osmotic fragility Decreased acid glycerol lysis time Thermal sensitivity testing shows fragmentation of the RBC at temperatures as low as 45°C. Evaluate the ratio of spectrin/band 3 to determine the spectrin level so that this entity can be differentiated from homozygous hemolytic elliptocytosis.

HEREDITORY PYROPOIKILOCYTOSIS

Case 4 The patient is a 7-month-old with cc of pallor and anorexia.CBC is shown below: WBC:6500, P:25, L:75 RBC:2.8 Hb:8.8 HCT:27 MCV:88 MCH:30 MCHC:33 PLT:453000

Retic:%0.8 PBS:NL ESR:30 CRP:NL U/A & U/C:NL

eADA: NL Hb electrophoresis: NL BMA:moderate decrease in erythroid series.

Under observed after 2 months; Hb was increased to 11.

DX Transient Erythroblastopenia of Childhood

Case 5 A male neonate, BW: 2400 g, was born by normal spontaneous delivery to a 28-year-old ,gravida II para I. At presentation there was noticeable pallor and mild generalized edema. A CBC revealed : Hb:6.6 g/dL, hematocrit 22.1%, WBC: 24000, Neutrophils 54%, l:46%, plt:280,000

Peripheral smear showed marked anisocytosis with RBCs being predominantly macrocytic and presence of polychromasia and nucleated RBCs (28 NRBC/100 WBC), few fragmented and dysmorphic RBCs were also noticed. Retic:12% Blood Group :Mother and infant: 0+ Coombs test : neg

Kleihauer-Betke stain showed 13 Kleihauer-Betke stain showed 13.34% fetal cells, which represented 620 ml of fetal blood loss in the maternal circulation on the basis of 55 kg of mother’s weight.

Risk factors

DX Of fetomaternal hemorrhage Kleihauer-Betke test (KBT) Alpha feto protein flowcytometry

Thank you