Presence of atypical beta globin ( HBB ) gene cluster haplotypes in sickle cell anemia patients of India

Nongbri, Sandor Rudy L.; Verma, Henu Kumar; Lakkakula, Bhaskar V.K.S.; Patra, Pradeep Kumar

doi:10.1016/j.bjhh.2017.01.007

Cited by 7 publications

(5 citation statements)

References 16 publications

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“…Atypical haplotypes are reported in many studies [18][19][20][21][22][23]. The presence of higher proportions of atypical haplotypes that observed besides AI haplotype in Relli and Thurpu Kapu populations in Andhra Pradesh is probably due to the result of gene conversion [22].…”

Section: Resultsmentioning

confidence: 99%

HBB gene cluster haplotype diversity in sickle cell anemia patients of Chhattisgarh, India

Lakkakula¹,

Pattnaik²

2021

J App Biol Biotech

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Sickle cell anemia (SCA) is one of the hereditary hemoglobin disorders in Indian populations. An exceptionally high prevalence of SCA is observed in the populations of Chhattisgarh. Restriction fragment length polymorphism (RFLP) haplotypes of the beta globin (HBB) gene cluster are important as population data, anthropological purpose for tracing migration of SCA allele and predicting the severity of SCA disease. The purpose of this study was to elucidate the HBB haplotypes and their correlation with clinical and hematological profile of SCA patients of Chhattisgarh population. The HBB gene cluster haplotypes were determined in 190 SCA patients by the polymerase chain reaction-restriction fragment length polymorphism method. Medical records of patients were reviewed to obtain pertinent clinical features, hemoglobin fractions, and other biochemical variables. Among the analyzed patients, 74% had Arab-Indian (AI) haplotype, followed by 21% atypical haplotypes. Senegal, Benin, and Cameroon types of HBB haplotypes represented 3%, 1%, and 1% of the patients, respectively. Comparison of various biochemical and hematological variables and clinical complications among various haplotypes did not reveal significant differences. The high frequency of atypical haplotypes observed may have been generated by single and double crossing-over between AI haplotype and normal HBB haplotype. Considering the Indian population's genetic structure and diversity, the results of our study should be considered as introductory, and our study can serve as a possible tool for additional studies of SCA in India.

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Section: Resultsmentioning

confidence: 99%

HBB gene cluster haplotype diversity in sickle cell anemia patients of Chhattisgarh, India

Lakkakula¹,

Pattnaik²

2021

J App Biol Biotech

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“…Rather than using genotyping individually, the haplotype analysis identifies common genetic features in a population [ 10 ]. Apart from this, several previous studies have shown that HBB haplotype analysis provides crucial information on genetic variations and haplotypes of different populations [ 20 - 22 ]. A study by Zhang et al., on genetic heterogeneity of HBB in various geographic populations of Yunnan in Southwestern China, identified seven different HBB haplotypes among 41 β-thalassemic chromosomes, where haplotype I and haplotype V were more than 65% (28 β-thalassemic chromosomes), while the remaining percentages were distributed to the other haplotypes [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

A Cross-Sectional Study of Detection of Beta Globin (HBB) Haplotypes Among Beta Thalassemia Patients

Alsamiri

Alzahrani

Filimban

et al. 2021

Cureus

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Beta-thalassemia is among the most common monogenic disorders in the Arabian Peninsula. This study aimed to investigate the β-globin (HBB) haplotypes among β-thalassemia patients in Saudi cohort which have potential implications in understanding the clinical care of patients and population genetic factors associated with β-thalassemia. Methods We analyzed 60 β-thalassemia patients. Male/female distribution for β-thalassemia was 58.33%/41.66%. Results of hematological parameters and indices were obtained from the database. HBB haplotyping assay was performed for four specific loci of the HBB gene cluster using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Results HBB haplotyping assay identified three novel patterns namely haplotype 1, haplotype 2, and haplotype 3 and three common African haplotypes including Benin, Senegal, and Cameron. The frequency of haplotype 1 was the highest among the studied samples (62%, n = 37) with 56.76% (n = 21) observed in males compared to 43.24% (n = 16) in females. This was followed by Senegal, haplotype 2, Benin and haplotype 3 with similar percentage, and Cameron haplotype with 18%, 12%, 3% and 2%, respectively. The relationship between these haplotypes and various hematological parameters was calculated and our study found no significant relationship (p-value >0.05). Conclusion Our study indicated the importance of finding out types of β-globin haplotypes as novel types being discovered. Though no statistically significant association was identified among all the haplotypes in terms of hematological parameters, Cameroon or Benin haplotypes had the mildest form because they have the highest means among all parameters. Further studies need to be carried out on a larger population to detect the frequency of each specific mutation in each haplotype among β-thalassemia patients. This would help to re-address the question of the origin(s) of the β-thalassemia.

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“…Genetic factors, such as mutations in the α- or β-globin gene, can modulate the clinical expression of SCD 5,6 . Pathogenesis of SCD varies by age group and also depends on haplotypes, although the Indo-Arab haplotype experiences milder disease because of higher fetal hemoglobin levels 7 . Leg ulcers are a recurrent and debilitating consequence of SCD, especially in those with the homozygous genotype.…”

Section: Introductionmentioning

confidence: 99%

Common, But Neglected: A Comprehensive Review of Leg Ulcers in Sickle Cell Disease

Sahu

Verma

Ganguly

et al. 2021

Adv Skin Wound Care

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OBJECTIVE To compile available evidence to better understand the management of leg ulcers in sickle cell disease (SCD), as well as describe potential therapeutic steps that may be required to improve the quality of life of patients with SCD leg ulcers. DATA SOURCES MEDLINE, PubMed, EMBASE, and Web of Science databases STUDY SELECTION A comprehensive search was conducted to retrieve relevant studies using the keywords “sickle cell disease and leg ulcer,” “ulcer treatments, diagnosis and sickle cell,” and “wound sickle cell.” Studies published through July 2020 were included. DATA EXTRACTION Two independent authors selected all studies that assessed the relationship between leg ulcer and SCD identified from online databases. DATA SYNTHESIS The authors have summarized updated information on pathophysiology (vasculopathy linked to chronic hemolysis and endothelial dysfunction), diagnosis, and available treatment options to unravel the dermohematologic connection between leg ulcers and SCD. CONCLUSIONS It is the authors’ hope that this detailed discussion of the information available on leg ulcers and SCD will lead to a better appreciation of this clinical problem by the clinicians and researchers and in turn have a long-term positive effect on the quality of life of patients with SCD. Researchers should design new trials considering these insights and potential therapeutic approaches based on current knowledge.

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Presence of atypical beta globin ( HBB ) gene cluster haplotypes in sickle cell anemia patients of India

Cited by 7 publications

References 16 publications

HBB gene cluster haplotype diversity in sickle cell anemia patients of Chhattisgarh, India

HBB gene cluster haplotype diversity in sickle cell anemia patients of Chhattisgarh, India

A Cross-Sectional Study of Detection of Beta Globin (HBB) Haplotypes Among Beta Thalassemia Patients

Common, But Neglected: A Comprehensive Review of Leg Ulcers in Sickle Cell Disease

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