Molecular basis of benign from sickle cell-B thalassemia syndrome in two nahraini patients

The aim was to study the different molecular determinants that might cause an extremely mild form of sickle cell beta thalassemia syndrome among our population. Two Bahraini students belonging to two unrelated families with normal clinical picture were noticed to have sickle cell beta thalassemia syndrome through hemoglobin electrophoresis. Different molecular genetic techniques were employed to study blood samples from these girls, namely, the polymerase chain reaction-restriction fragment polymorphism [PCR-RFLP], denaturing gradient gel electrophoresis [DGGE], and differential PCR amplification. Three different molecular determinants were found in these students for the beta. globin gene: Compound heterozygosity for the sickle cell mutation and nt 88 [C to A] mutation. Haplotype were shown to be the Saudi-Indian haplotype for the sickle cell mutation and haplotype No. IX for nt. 88 [C to A] mutation. Alpha- globin gene mapping revealed homozygosity for the rightward deletion [--alpha [3.7]/ -alpha[3.7]] for both students. different molecular determinants were found in association with this mild form of sickle cell beta-thalassemia disease: namely inheritance of mild beta+ thalassemic mutation, HbS haplotype- associated high HbF expression, and coinheritance of alpha-thalassemia. All of these modulators were found to give a mild state of sickle cell disease in our patients. This indicates that, molecular diagnostics techniques are of invaluable importance in giving a precise and definitive diagnosis, and to predict the clinical manifestation

Spectrum of beta-thalassaemia mutations in Bahrain

To study the molecular characterization of Beta-thalassemia mutations among Bahrainis. We used a variety of polymerase chain reaction [PCR]-based procedures including reverse dot blot [RDB], denaturing gradient gel electrophoresis [DGGE] and DNA sequencing, to study the Beta-thal mutation in 87 Bahrain Individuals from 51 unrelated Bahraini families. : Thirteen different Beta-thal mutations were identified. Four mutations [Intervening Sequence I [IVSI]-3' end [-25 base pairs [bp]] deletion; Codon [Cd] 39 [C-] and IVSI-5 [G-"C], account for -80 percent of all B-thal alleles. We conclude that IVSI-3' end [-25bp] deletion is the major B-thalassemic allele in Bahrain. Based upon our findings, a preventive approach of B-thalassemia needs to be embloyed for the Bahraini people. This study can be used in implementing a cost effective strategy for screening and diagnosis of Beta-thal among Bahrainis