Question :
Posted On : 31 Dec 2020
An 18 months old baby came with severe anemia with a history of two transfusions first at 7 months of age when his hb was 5gm percent and second bt at 9 months of age. His GBP is normocytic normochromic.at present his CBC is as under-HB-4.6,TLC-5900, DLC-P 29l69e2,ESR-82,RBC-1.53,PCV-15.1,MCV,-98.7,mch-29.8,mchc-30.2, platelet-3.07,rdw-19.2. There is no hepatosplenomegaly. What could be the possible causes of congenital anemia without hepatosplenomegaly, with mcv-98.7 and rdw-19.2, normocytic normochromic blood picture, and patient need blood transfusion recurrently?
5
Expert Answer :
There are several possibilities:
1. DBA but the presentation is rather too late for it. High RDW is unfavourable but knowing the Retic count would help.
2. One ot the Hbpathies can present in a similar fashion especially Homozygous Sickle can very rarely present so early and be so symptomatic` The PS would show target cells, Sickle cells may be picked up and retic can be high.
3. hbH disease can also present like this but very often has organomegaly and Retic preparation may show heinz bodies
4. One of the enzymopathies may present with severe anaemia with out HSmegaly` but once again i need to know retic count.
5. Congenital dyserythropoietic anaemia can also come in a similar fashion as you have predominantly RBC lineage involvement
6. An Acquired Parvovirus infection in an immunocompromised child can present similarly with prolonged PRCA but cannot explain an RDW elevated
Answer Discussion :
S
Sabin Roy
Can someone explain why the film is been reported as normoctyic normochromic but the MCV is high suggesting macrocyctic anemia . The most likely diagnostics is diamond Blackfan syndrome.
19 Days ago
G
gabriel Nasania
diagnosis might be leukaemia and yes the patient needs frequent blood transfusion
19 Days ago
T
Tariq ahamad
diamond blackfan
20 Days ago
R
Ravi Goyal
malaria, fanconi's
21 Days ago
F
fekadu belay
diamond blackfan
22 Days ago




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