Co-inheritance of alpha and beta-thalassemia in a Jordanian family.
Additional alpha-genes may increase the severity of heterozygous beta-thalassemia. Conversely, the co-inheritance of alpha-thalassemia with homozygous beta-thalassemia and the consequent reduction in alpha-globin chain excess often results in a milder clinical and haematological phenotype. This study describes the hematological and the molecular data resulting from the interaction between alpha and beta-thalassemia determinants in a Jordanian family. The parents are double heterozygotes for alpha and beta-thalassemia. DNA analysis of four children characterized homozygosity for beta+ IVS 1.6 thalassemia mutation in three of them. Co-existing heterozygosity for -alpha 3.7 was detected in two of them (Children 1 and 2). Those two children have a less severe clinical course than that of the third child (Child 3) with homozygosity for beta-thalassemia only. The co-existence of -alpha3.7 mutations with homozygous beta-thalassemia may have converted a transfusion-dependent thalassemia major to non transfusion-dependent thalassemia intermedia. The fourth child (Child 4) was heterozygous for -alpha3.7 but lacked beta+ IVS 1.6 mutation and appeared normal.
Al Qaddoumi
Ayman A
AA
Molecular Hematology Laboratory, Princess Iman Research Center for Laboratory Sciences, King Hussein Medical Center, Amman, Jordan. aymanqad@yahoo.com
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005190:Family; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D007597:Jordan; D008297:Male; D009154:Mutation; D017085:alpha-Thalassemia / Q000097:blood / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*