Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient

Abstract

Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: −92 C > G. The β-thalassaemia major male individual was transfusion-dependent and had an atypical β-globin gene cluster haplotype. Of the two mutations, Hb Monroe has been characterized in detail. Clinical effects of the other mutation, HBB: −92 C > G, are unknown so far. Bioinformatics analyses were carried out to predict the possible effect of this mutation. These analyses revealed the presence of a putative binding site for Egr1, a transcription factor, within the HBB: −92 region. Our literature survey suggests a close relationship between different phenotypic manifestations of β-thalassaemia and Egr1 expression.

Prevalence and Distribution of Thalassemia Trait Screening

“…4,5 The mutation can cause hereditary anemias due to decrease hemoglobin synthesis and red blood survival. 6 Beside, structural hemolgobin variant known as hemoglobinophaty are also caused by abnormality in globin chain such as HbS, HbC and HbS.…”

Tracing the Indian Population Ancestry by cis-linked Mutations in HBB Gene

“…Thus, the haplotype mutation prevails in the countries situated on the South-western countries of Asian continent. Consequently reports are available from South-East Asian contries including Bangladesh, Myanmar and Thailand (Fattoum et al, 1991; Win et al, 2002; Ibn Ayub et al, 2010; Moosa et al, 2011; Teh et al, 2014; Islam et al, 2018; Srewaradachpisal et al, 2020) (Table 1).…”

Unstable abnormal hemoglobins found in Russia in the past 10 years

“…Hb Monroe/Kairouan, впервые идентифицированный в США, позже описан у пациентов в Индии, Бангладеш, Малайзии, ОАЭ, Тунисе, Иране и Таджикистане [13][14][15][16][17][18][19][20][21]. В нашей когорте пациентов Hb Monroe выявлен в 2 неродственных семьях (русские и крымские татары).…”