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ArticleCureus2021

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

Ali Alsamiri, Fatma Alzahrani, Najlaa Filimban, Ammar Khojah, Raed Felimban, Talal Qadah

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Article in Cureus, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Ali AlsamiriMedical Laboratory Technology, King Abdulaziz University - Faculty of Applied Medical Sciences, Jeddah, SAU.
Fatma AlzahraniPediatrics, King Abdulaziz University Hospital, Jeddah, SAU.
Najlaa FilimbanMedical Laboratory Technology, King Abdulaziz University - Faculty of Applied Medical Sciences, Jeddah, SAU.
Ammar KhojahMedical Laboratory Technology, King Abdulaziz University - Faculty of Applied Medical Sciences, Jeddah, SAU.
Raed FelimbanMedical Laboratory Technology, King Abdulaziz University - Faculty of Applied Medical Sciences, Jeddah, SAU.
Talal QadahMedical Laboratory Technology, King Abdulaziz University - Faculty of Applied Medical Sciences, Jeddah, SAU.
King Abdulaziz Medical City · SAKing Abdulaziz University · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction 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.

Indexed as

beta globin genebeta thalassemiahbb haplotype

Identifiers

PMID33754095
PMCPMC7971723
OpenAlexW3131735221

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