1. In the name of god

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

3. 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.

4. 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

6. What is your DDX?

11. What additional labs Do you recommend ?

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

16. G6PD:NL
Pyruvate kinase: decrease

17. ImportanCe of pbs
Star cell: pyruvate kinase deficiency

18. IMPORTANCE OF pbs

19. Trisomy 13

21. mucopolysacaridosis

22. 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

23. What additional labs do you recommend and what are DDX?

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

25. 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

26. Hand abnormality (three phalanges thumb)

27. Diamond blakfan Anemia + minor thalassemia

29. 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

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

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

33. Parents’ CBC: microcytosis in his father with normal electrophoresis

34. 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.

37. HEREDITORY PYROPOIKILOCYTOSIS

38. 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

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

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

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

42. DX
Transient Erythroblastopenia of Childhood

43. 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

44. 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

46. 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.

47. Risk factors

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

49. Thank you