Asian Journal of Microbiology, Biotechnology & Environmental Sciences Paper

Vol 17, Issue 2, 2015; Page No.(373-378)

COMBINATION OF HAEMOGLOBIN E WITH β-THALASSEMIA IVS1NT5 CAUSES SEVERE ANEMIA IN A CHILD

SUSIANTI Y., ADHIYANTO C. , AUDA R., HARIYATI Z. AND SURYANI L.

Abstract

Haemoglobin E was a common disease in Indonesia, estimated 1.5 - 36% cases of HbE in Indonesia, depend on areas. Haemoglobin E or HbE was the haemoglobin disorders caused by substitution mutation in codon 26 of the β-globin gene. The manifestation of the person who carries this gene depends on the form of the corresponding genotype. The person who carries a heterozygous form of this disorder, with clinical manifestation was asymptomatic, we don¬ít find anemia. Meanwhile the homozygous form was slightly until moderate anemia. The problem occurs when someone has heterozygous HbE also suffer thalassemia, either α- or β-thalassemia (thal). In a person has combination HbE and thal, the severity of anemia is depending on the type of mutation of thal. We reported the cases of the combination of HbE-β-thal IVS1nt5 found in a child in a family, in Jakarta. The laboratory data show female, 6 years old, Hb 5.9 g/dL; RBC 3.09x106/uL, Htc 18.5%; MCV 59.9 fl; MCH 19.1 pg; MCHC 31.9 g/dL, severe anisopoikilocytosis; Total bilirubin 3.71 mg/dL; direct bilirubin 0.49 mg/ dL. Haemoglobinopathy electrophoresis results were Hb A 42.3%; Hb A2 37.8% Hb F 19.9%. Analysis of DNA sequence shows heterozygous mutation of β-globin gene, codon 26 and intron 1 nucleotide 5. The coexistence gene triplication and dominant-type were not found. Inflammation that sometimes aggravates the phenotype was not present. The parent and her brother in this family revealed mild anemia.

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