In this paper, we present data on studies of beta S-haplotypes and alpha-thalassemia gene in subjects from the indigenous population of the Coast Province of Kenya Of the 7SS patients studied, four were homozygous for beta S-haplotype 20 characteristically associated with the severe form of sickle cell anemia found in the Central African Republic and Western Kenya. Two had haplotype 20 combined with haplotype 19 (Benin Type) and one had haplotype 20 combined with a new haplotype (20x). Alpha thalassaemia-2 gene (-3.7kb deletion) was detected in 45.6% of the 57AA subjects studied. An alpha globin gene triplication was detected in one subject whereas eight had gamma globin gene triplication.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Clinical, laboratory, and molecular characteristics of a cohort of children with hemoglobinopathy S/beta-thalassemia.
Hematol Transfus Cell Ther
December 2023
Faculdade de Medicina/Núcleo de Ações e Pesquisa em Apoio Diagnóstico (NUPAD), UFMG, Belo Horizonte, MG, Brazil. Electronic address:
Introduction: Hemoglobinopathy Sβ-thalassemia (HbSβ-thal) has a wide range of clinical and laboratory severity. There is limited information on the natural history of HbSβ-thal and its modulating factors. We described the molecular, hematological, and clinical characteristics of a cohort of children with HbSβ-thal and estimated its incidence in Minas Gerais, Brazil.
View Article and Find Full Text PDFInfluence of UGT1A1 promoter polymorphism, α-thalassemia and β haplotype in bilirubin levels and cholelithiasis in a large sickle cell anemia cohort.
Ann Hematol
April 2021
Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil.
Article Synopsis
- Hyperbilirubinemia in sickle cell anemia (SCA) patients can lead to gallstone (cholelithiasis) formation, with some evidence linking this to genetic variations like UGT1A1 promoter polymorphisms, which are associated with Gilbert syndrome (GS).
- A study analyzed 913 SCA patients to investigate the relationship between UGT1A1 alleles, alpha thalassemia, and beta haplotypes with bilirubin levels and the presence of gallstones. Results showed that GS patients had higher bilirubin levels and an earlier onset of gallstones compared to those without it.
- The research found that low fetal hemoglobin levels and a normal alpha thalassemia
Prevalence and Diversity of Haplotypes of Sickle Cell Disease in the Eastern Province of Saudi Arabia.
Hemoglobin
March 2020
Center of Excellence in Sickle Cell Disease, Boston Medical Center, Boston, MA, USA.
Hb F modulates sickle cell disease. Five major haplotypes of the β-globin gene cluster are associated with sickle cell disease. In the Eastern Province of Saudi Arabia, the Arab-Indian (AI) is most common.
View Article and Find Full Text PDFWhole genome sequence-based haplotypes reveal a single origin of the 1393 bp deletion.
J Med Genet
August 2020
Sickle Cell Branch, NIH, Bethesda, Maryland, USA
Background: Mutations of give rise to two prevalent haemoglobin disorders-sickle cell disease (SCD) and β-thalassaemia. While SCD is caused by a single base substitution, nearly 300 mutations that downregulate expression of have been described. The vast majority of β-thalassaemia alleles are point mutations or small insertion/deletions within the gene; deletions causing β-thalassaemia are very rare.
View Article and Find Full Text PDFEffect of N(Epsilon)-(carboxymethyl)lysine on Laboratory Parameters and Its Association with Haplotype in Children with Sickle Cell Anemia.
Dis Markers
April 2020
Laboratório de Investigação em Genética e Hematologia Translacional, Instituto Gonçalo Moniz, Salvador, BA, Brazil.
The present study aimed to investigate the association of N -carboxymethyllysine (CML) with laboratory parameters and haplotypes in pediatric sickle cell anemia (SCA) patients with or without hydroxyurea (HU) therapy. We included 55 children with SCA (SCA), where 27 were on HU treatment (SCA-HU) and 28 without HU treatment (SCA-HU). Laboratory characteristics were determined using electronic methods while CML was measured using competitive ELISA.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!