Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine

BMC Hematology

Table 1 β-Globin gene mutations detected in Palestinian β-thalassemia intermedia patients. Allele frequencies were calculated based on 102 chromosomes from 51 patients

Mutation	Nt. Substitution	Type of mutation	HGVS nomenclature	Allele frequency (%)^a
IVS-I-6	T > C	β⁺	HBB:c.92 + 6 T > C	76.5
IVS-I-1	G > A	β⁰	HBB:c.92 + 1G > A	2.0
IVS-I-110	G > A	β⁺	HBB:c.93-21G > A	7.8
Codon 37	TGG > TGA	β⁰	HBB:c.114G > A	3.0
IVS-II-1	G > A	β⁰	HBB:c.315 + 1G > A	6.9
IVS-II-848	C > A	β⁺	HBB:c.316-3C > A	1.0
Beta −101	C > T	β⁺⁺	HBB:c.-151C > T	2.0

^aThe wild type allele (β^wt) is present in one case from 51 patients and is not shown in the above table, making the sum of allele frequency 99.2 rather 100

ISSN: 2052-1839