Challenges in Early Infant Diagnosis of Beta Thalassemias

Tika Adilistya*¹ and Landelina Lany²

Received: February 21, 2018;   Published: February 28, 2018

DOI: 10.26717/BJSTR.2018.02.000810

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Abstract

Thalassemias are a heterogeneous group of genetic disorders that result from a reduced rate of synthesis of  or ß chains. The genetic defects of hemoglobin are the most genetic disorders worldwide. They occur in tropical and subtropical areas and most appear to have been selected because the carrier state affords some protection against malaria. Indonesia is among a group of countries with high prevalence of thalassemias. The burden of this disorder in the country is of such a magnitude that it represents a major public health concern. Laboratory diagnosis of thalassemia, which consists of blood film examinations and hemoglobin electrophoresis, are the most common modalities in our country since DNA analysis for  or ß globin mutations is high cost and only available in the capital city. On the other hand, diagnosis of thalassemia becomes more complicated because of high prevalence of iron deficiency anemia in the country [1]. Health survey data in 2001 showed the prevalence of deficiency anemia in infants 0-6 months, infants 6-12 months, and children under five years old were 61.3%, 64.8%, and 48.1%, respectively. Iron deficiency should be excluded because it causes falsely low HbA2 fractions on hemoglobin electrophoresis using micro capillary electrophoresis method. Whenever iron deficiency is detected, before a definitive diagnosis, the hematological parameters must be re-evaluated after iron supplementation. Here is a case of nine months old child with recurrent hemolytic anemia and clinically suspected of having thalassemia.

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