Fetal Hemoglobin - Pediatric Oncall

4th Pediatric Infectious Diseases Conference

ISSN 0973 - 0958

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Rakesh Kumar, Binay Ranjan, Manjul Vijay Department of Pediatrics, Katihar medical college, Katihar...

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	Specialist Answers
Question
I have a patient who has persistent fetal hemoglobin. He is 20 years old. He is well, did not need blood transfusion ever. Now he has yellow sclera and mild increase in the serum indirect bilirubin. What could be the cause? and will his children be like him? thanks.
Answer
Rule out thalassemia intermedia. Also rule out unstable hemoglobinopathy. The fetal hemoglobin and indirect hyperbilirubinemia suggest hemolytic anemia. DNA analysis can be done by offering prenatal diagnosis to the couples. It is essential to characterize the DNA mutations of the parents. Fetal DNA analysis could be done by extracting DNA from amniotic fluid after 15 weeks of gestation and chorionic villus samples (CVS) between 10-12 weeks or later gestation. For sickle cell anemia, the discovery of the linkage between the HbS gene and restriction endonuclease polymorphism enables the diagnosis to be made prenatal by analyzing genomic DNA of fetal cells obtained by amniocentesis. This procedure carries only a 0,5 % fetal risk. There are two main laboratory test performed on the amniotic fluid obtained: Polymerase Chain Reaction (PCR) + Enzyme detection of the mutation Polymerase Chain Reaction + Oligonucleid hybridization These techniques are done at AIIMS and at I.C.Verma Back to All Questions

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