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

Moosa, Mahdi Muhammad; Ayub, Mustak Ibn; Bashar, Emran; Sarwardi, Golam; Khan, Waqar Ahmed; Khan, Haseena; Yeasmin, Sabina

doi:10.1590/s1415-47572011005000026

Cited by 8 publications

(5 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…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.…”

Section: Introductionmentioning

confidence: 99%

Prevalence and Distribution of Thalassemia Trait Screening

Husna¹,

Arif²,

Putri³

et al. 2017

JMedScie

View full text Add to dashboard Cite

Thalassemia is an inherited disorder of autosomal recessive gene caused by decrease or absent production of one or two type of globin chain. This disorder will affect the quality and quantity of blood production. In Indonesia, thalassemia is not concerned as urgency, although it lies in thalassemia belt area. Thalassemia is classified according to the particular globin chain which affected such as a-thalassemia and b-thalassemia. Besides thalassemia, there are variant hemoglobinopathy called HbE. The aim of this study was to assess the prevalence of thalassemia carriers among the volunteer of screening in Yogyakarta Special Region from 2012 until 2015. The thalassemia carrier screening was conducted by collaborating with Indonesian Association of Parents of Children with Thalassemia (APCT) Yogyakarta. The hematological measurement and High-Performance Liquid Chromatography (HPLC) were performed on Prodia Laboratory Yogyakarta. The analysis of carriers prevalence was conducted in Laboratory of Genetics and Breeding, Faculty of Biology, Universitas Gadjah Mada, Yogyakarta. Among 241 volunteers, we found 44 volunteers was diagnosed as b-thalassemia carrier, 30 volunteers as a-thalassemia carrier as well as HbE disorder carrier, and 1 volunteer was diagnosed as a-b-thalassemia carrier. The number of thalassemia carrier shows no significant difference each year. The prevalence of thalassemia carrier is high, even though the distribution is limited by the location where the screening took place. ABSTRAKThalassemia adalah kelainan bawaan pada gen resesif autosomal akibat penurunan atau tidak diproduksinya satu atau dua jenis rantai globin. Kelainan ini mempengaruhi kualitas dan kuantitas produksi darah. Di Indonesia, thalasemia belum menjadi masalah penting walaupun lokasinya termasuk dalam daerah sabuk thalasemia. Thalasemia diklasifikasikan berdasarkan rantai globin yang mengalami mutasi yaitu a-thalasemia dan b-thalasemia. Selain thalasemia, ada satu varian hemoglobinopati yang disebut HbE. Tujuan dari penelitian ini adalah untuk menentukan prevalensi thalasemia di antara relawan skrining di Daerah Istimewa Yogyakarta dari tahun 2012 sampai 2015. Skening thalasemia dilakukan dengan bekerjasama Perhimpunan Orang tua Penderita Thalasemia Indonesia (POPTI), Daerah Istimewa Yogyakarta. Pemeriksaan hematologi dan High-Performance Liquid Chromatography (HPLC) dilakukan di Laboratorum Klinik Prodia, Yogyakarta. Analisis prevalensi pembawa gen thalasemia dilakukan di Laboratorium Genetik dan Pemuliaan, Fakultas Biologi, Universitas Gadjah Mada, Yogyakarta. Dari 241 sukarelawan yang diskrining, 44 sukarelawan didiagnosis sebagai pembawa a-thalasemia, 30 pembawa 107 Nailil Husna et al., Prevalence and distribution of thalassemia trait screening b-thalasemia dan HbE serta satu pembawa a-b-thalasemia. Jumlah pembawa thalasemia tidak menunjukkan perbedaan yang signifikan setiap tahunnya. Prevalensi pembawa thalasemia tinggi, meskipun distribusinya dibatasi oleh lokasi dimana skrining dilakukan.

show abstract

Section: Introductionmentioning

confidence: 99%

Prevalence and Distribution of Thalassemia Trait Screening

Husna¹,

Arif²,

Putri³

et al. 2017

JMedScie

View full text Add to dashboard Cite

show abstract

“…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).…”

Section: Resultsmentioning

confidence: 99%

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

Panja

Chowdhury

Basu

2021

Preprint

View full text Add to dashboard Cite

BackgroundHuman left their genetic footprints during the time of migration throughout the different countries all over the world. Human evolution was studied through various markers. India is a country of rich heritage and cultural diversity. The modern Indian population is derived from two ancestral groups, viz.-Ancestral North Indians (ANI) and Ancestral South Indians (ASI).AimFinding out the migratory route of the modern Indian population by studying ‘cis’ acting mutations of human beta-globin (HBB) genes.Subjects and methodsA total of 120 thalassemia subjects were enrolled. DNA sequencing was done for mutation detection in the HBB gene. Some previous literature reviews were gone through for tracing mutations, all over the world and in the Indian subcontinent.ResultsNine thalassemia patients were found where HBB:c.92G>C and HBB:c.-92C>G mutations co-exist together in ‘cis’ condition. Only one patient had HBB:c.51delC and HBB:c.33C>A. The pedigree analysis confirmed the presence of these mutations in ‘cis’ condition and vertical transmission from one generation to the next. Literature reviews also reassure the co-existence of these mutations from different countries.ConclusionThe co-existence of these ‘cis’ acting mutations helps to point out the possible migratory route of ANI population after venturing out of Africa.

show abstract

“…Polymerase chain reaction (PCR) was done targeting a 587 bp mutational hotspot region of the E-globin gene using one set of primers (forward primer: 5´-gctgtcatcacttagacctca-3á nd reverse primer: 5´-cacagtgcagctcactcag-3´). [20][21][22] 1.5% agarose gel electrophoresis was carried out for the confirmation of PCR products.…”

Section: Methodsmentioning

confidence: 99%

Identification and Integrative Bioinformatics Analysis of Common and Rare Mutations in the Patients with Transfusion Dependent HbE/b and b-thalassemia in Chittagong, Bangladesh

Islam

Das

Hossain

et al. 2023

Bangladesh Med Res Counc Bull

View full text Add to dashboard Cite

Background: Thalassemia is an inherited blood disorder that affects hemoglobin’s structure and functions. Among several forms of this life-threatening disorder, HbE/β and β-thalassemia are most common in Bangladesh and worldwide as well. But the molecular and clinical data are not adequate regarding the underlying cause of this genetic disorder in Bangladesh. So, we aimed to identify the genetic mutations within β-globin gene (HBB) and to investigate the correlation of the mutations with HBB mRNA structure, gene transcription and hematological status among the patients with blood transfusion dependent HbE/β and β-thalassemia in Bangladesh. Methods: A total of 40 blood samples were collected from the patients with blood transfusion dependent HbE/β and β-thalassemia prior to taking their consent. Detection of mutations within HBB gene was carried out by polymerase chain reaction followed by Sanger DNA sequencing method. Identification and characterization of mutations along with their effects on HBB gene were analyzed by various bioinformatics approaches. In addition, complete blood count (CBC), and hemoglobin electrophoresis were done for hematological analysis. Results: c.92+5G>C, c.79G>A and c.9T>C genetic mutations were identified within the HBB gene, where c.92+5G>C was the most common mutation among the study patients. Mutations along with hematological status and putative transcription factor binding sites revealed that the severity of the disease depends upon the mutation type and its location in the HBB gene sequence. In addition, mRNA structure analysis showed that the identified mutations contribute to its structural diversity by altering folding mechanism that ultimately affects the stability and function of the HBB protein among the patients with blood transfusion dependent HbE/β and β-thalassemia. Conclusions: The study showed the underlying cause of HbE/β and β-thalassemia in genetic level by identifying rare and common mutations within HBB gene and their effects on with HBB gene transcription and mRNA structure. We hope study will contribute in designing effective molecular medicine and other therapeutics for the patients with HbE/β and β-thalassemia to improve their health condition. Bangladesh Medical Res Counc Bull 2022; 48(3): 180-188

show abstract

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

Cited by 8 publications

References 26 publications

Prevalence and Distribution of Thalassemia Trait Screening

Prevalence and Distribution of Thalassemia Trait Screening

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

Identification and Integrative Bioinformatics Analysis of Common and Rare Mutations in the Patients with Transfusion Dependent HbE/b and b-thalassemia in Chittagong, Bangladesh

Contact Info

Product

Resources

About