“Mutations in beta globin chain?”
My son's (3 year old) genetic blood work resulted in two beta gene mutations of IVS1+110 (G>A)and IVS1.6 (T>C). They expect they are heterozygous but don't know whether the mutations occurred in one allele or two alleles. How serious is this combination of mutations?
Male | 3 years old
Complaint duration: 300
Conditions: blood disorder
1 Answer
The molecular chain of IVS1+110 (G>A), is identified as substitution that identify the B-Thalassemia gene. Beta Thalassemia major is caused by homozygous mutation (beta-zero thalassemia) of the beta globulin gene resulting of total absence of beta chains. It is manifested clinically by jaundice, growth retardation, hepatosplenomegaly (increase liver and spleen size), endocrine abnormalities and life-long blood transfusion. The IVS 1.5 mutation is the severe form of B (+)-Thalassemia. The IVS-1 means the first intervening sequence. The beta+-IVS-1-6 (T--C) mutation account for half of the thalassemia chromosomes in the Palestinian population of the mountain regions. The IVS1-6 mutation may date back to ancient times. This is a nonsense mutation at codon 37 (G-A) that was found in that region. Beta thalassemia mutation results from point mutation in the beta-globin gene. The thalassemia is inherited autosomal recessive disease, resulting from mutation in the Alpha or Beta globin gene cluster on chromosome 16 and chromosome 11, respectively. Go to the Orphanet Journal of Rare Diseases and find Beta-Thalassemia. Thank you.
