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 dont 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.