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Haplotypes, sub-haplotypes and geographical distribution in Omani patients with sickle cell disease

Suha Mustafa Hassan, Muhanna Al Muslahi, Muna Al Riyami, Abeer Al Balushi, Egbert Bakker, Cornelis L. Harteveld, Piero C. Giordano
  • Suha Mustafa Hassan
    Molecular Genetic Laboratory, Genetics Centre; Royal Hospital, Muscat, Oman | suha_85@hotmail.com
  • Muhanna Al Muslahi
    Royal Hospital, Muscat, Oman
  • Muna Al Riyami
    Royal Hospital, Muscat, Oman
  • Abeer Al Balushi
    Royal Hospital, Muscat, Oman
  • Egbert Bakker
    The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands
  • Cornelis L. Harteveld
    The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands
  • Piero C. Giordano
    The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands

Abstract

Despite the fact that patients homozygous for the sickle cell disease (SCD) mutation have an identical genotype, the severity of the disease can be extremely variable. The hemoglobin (Hb) S mutation has been described on five different haplotypes with different clinical expression. Identifying the genotypes, haplotypes and sub-haplotypes of the β gene cluster in Oman needs to be studied in more details to establish a correlation between the genotype/haplotype and phenotype diversity observed in SCD patients for prognostic purposes, accurate diagnosis and thus planning for the best tailored treatment. We have investigated 125 HbS homozygotes from different parts of Oman and determined their haplotypes and sub-haplotypes and correlated this to the hematological and clinical expression. We have found 11 haplotype combinations differently distributed in the country, with the Asian/Asian HbS haplotype being the most predominant. Sub-haplotypes was only found among patients with CAR/OmanI haplotype. As expected, the correlation between haplotypes, sub-haplotypes and disease severity was mainly associated with HbF expression. Our study on haplotype/phenotype correlation has shown which major haplotypes occur in the different regions of Oman. Furthermore, neither the haplotype or sub-haplotype nor the HbF alone appeared to be fully associable with the variable clinical phenotypes. External factors do occur and are associated with the expression of the disease.

 

 

尽管镰状细胞突变病(SCD)患者拥有相同的基因类型,但患者的病患程度却大相径庭。血红蛋白(Hb)S突变有五种不同的单体型,各种类型在临床表现上也不相同。为了识别在阿曼地区β基因簇的基因型、单体型,亚单体型,需要研究更多以SCD患者预后为目的,关于其观察到的基因型、单体型,表型多样性之间联系的更多细节,以便作出准确的诊断,为各个患者量身制定治疗方案。我们研究了125个来自阿曼不同地区的HbS纯合体,并确认了它们的单体型和亚单体型血液学上的临床表现。我们已找到了该国家11个单体型组合的不同分布,其中以亚洲/亚洲HbS单体型为主要类型。亚单体型只在CAR/OMANI单体型患者中被发现。正如之前所料,单体型、亚单体型和病患程度之间的联系主要与HbF表现相关。我们关于单体型和亚单体型之间联系的研究显示出了阿曼地区最为主要的单体类型。此外,无论是单体型、亚单体型还是HbF,都被证明与该疾病不同的临床表现没有紧密的联系。外部因素是该疾病不同表现的致因。

Keywords

Sickle cell disease; genotype; haplotype; sub-haplotype; Oman.

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Submitted: 2014-10-02 16:39:24
Published: 2015-05-19 16:09:42
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Copyright (c) 2015 Suha Mustafa Hassan, Muhanna Al Muslahi, Muna Al Riyami, Abeer Al Balushi, Egbert Bakker, Cornelis L. Harteveld, Piero C. Giordano

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