RESUMO
Hemoglobin E (Hb E) disorder is an important kind of hemoglobinopathy. It can be seen around the world with the highest prevalence in Southeast Asia. The screening for this disorder becomes the public health policies in many countries. The screening can be performed in several population groups. The newborn screening program for Hb E disorder is an important issue in pediatric genetics. In this brief review, the author discusses on important laboratory tests for screening for Hb E disorder in newborn.
Assuntos
Hemoglobina E/efeitos adversos , Hemoglobina E/genética , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/epidemiologia , Hemoglobinopatias/etiologia , Hemoglobinopatias/genética , Humanos , Recém-Nascido , Triagem NeonatalRESUMO
Clinical and hematological features of nine cases of Hemoglobin E variant were studied prospectively over three years. There were three cases of HbE-beta thalassemia and six cases of homozygous HbE disease. Two cases were asymptomatic. The commonest symptom was jaundice (unconjugated 2). Other symptoms were left hypochondrial pain, tiredness, syncope and failure to thrive. Splenomegaly and microcytosis was detected in all. Mild anaemia was present in majority (6/9), and the mean hemoglobin was 11.3 gm/dl. Reticulocyte count was normal in all and cholelithiasis was seen in one patient only. Clinical and hematological features were evaluated and compared to reported series. Splenomegaly was found to be more common.