Research Article Vol:4,Issue:1
Vinisia Setiadji, Bidasari Lubis, Adi Koesoema Aman, Stephen CL Koh, Herman Hariman
Thalassaemia an inherited gene disorder is caused by the decrease or absence of one or two types of globin chains of the adult haemoglobin. The aim of the study was to report compound heterozygosity for 41/42 (-TTCT) and codon 26 (G→A) mutation in a Javanese sibling and the mutations inherited from parents with either β-thalassaemia or Hb E traits. Two families whose parents were β-thalassaemia carriers were recruited. The first family have five siblings and the second family two siblings. Full Blood Count, MCV, MCH, peripheral blood morphology and haemoglobin electrophoresis was done together with DNA analysis. Mahidol scoring for clinical severity was adopted. Three siblings from two families were deemed normal as they did not inherit the mutations (incidence 40% to 50%). Four siblings inherited mutations (incidence 50% to 60%). Moreover, two siblings inherited mutations from both parents and deemed compound heterozygosity (incidence 20% to 50%). Mahidol scoring showed that the sibling with IVS-1-nt5 (G→C) and codon 26 (G→A) mutations had moderate disease and codon 26 (G→A) with codon 41/42 (-TTCT) mutations was severe. Codon 41/42 (-TTCT) compound heterozygosity to our knowledge was the first report found in the Javanese sibling. Both siblings require regular blood transfusions. The peripheral blood morphology displayed hypochromic microcytosis and variation of red blood cell shapes and lower MCH and MCV levels in the affected families. The incidence of inheritance from parents with β-thalassaemia traits from our study may form a probable prediction in family inheritance.
Key Words: β-thalassaemia/Hb E compound heterozygosity, mutations
SAJMED.2019; 4(1):102-108 PDF Download