Question of the Week

Question :
Posted On : 08 Sep 2004
A 9 year old child ,product of consangious marriage is brought to us with history of pallor. On examination child was markedly pale with thalassemic facies {prominent cheeks}.On systemic examination, he was jaundice, with liver of 3cm below the right coastal margin and spleen just palpable. Others system normal. Height and weight normal for his age. There is no history of blood transfusion in the past.His mother is thallasemic carrier and one on his younger sister is thalssemic major being transfused every month. Our admitting diagnosis was hemolytic anemia most likely thalasemia intermedia. But lab shows picture as thalassemia minor as his HB electrophoresis showed HbA as 83.1 Percent, HbA2 as 10 Percent and HBF as 6.9 Percent. Retic counts were 4 Percent, Hb on admission was 5g,dl. His LFT's showed liver enzymes normal, bilirubin was 2.6mg,dl. His RDW was 42. Peripheral film show anisocytosis, piokiolocytosis and fragmented RBC. Urine R,E showed no bilirubin in urine. His Ferritin is 111ng,ml{N} My question is this child is clinically behaving as thalassemia intermedia but Hb electrophoresis show thalassemia minor picture. It is mentioned in literature that con-comitent iron deficiency anemia can interfere with HB electrophoresis by interfereing with HbA2 being high. But how to diagonse iron deficiency anemia in thalaseemic child when serum ferritin is 111ng,ml. What should be done further in this child to arrive at a conclusion?
3
Expert Answer :
No expert answer available.
Answer Discussion :
D
Dr Archana Kavalakka
Profile
I would suggest doingcomplete iron studies. also,Rdw which is raised is a good indicater of iron deficiency.It would be normalin Thal trait.
20 years ago
P
pediatriconcall
Profile
Based on the clinical and hemotological picture of this patient, he certainly seems to have "Thalassemia Intermedia"

Thalassemia Intermedia can be a consequence of a combination of many
different gene defects. For e.g. A single beta thalassemia gene defect from
one parent,{beta thalessemia carrier} can combine with another defect from
the other parent, which may be alpha or beta or even delta gene defect.

Hence the above clinical and hematological phenotype of the child can be further dissected by molecular gene analysis of the entire family.

20 years ago
J
josé manuel merino
Profile
Soluble Transferrin Receptor determination or 1-month therapeutic iron trial {3 mg-kg}
20 years ago




Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0