The effects of old and recent migration waves in the distribution of HBB*S globin gene haplotypes

Lindenau, Juliana Dal-Ri; Wagner, Sandrine Comparsi; Castro, Simone Martins de; Hutz, Mara Helena

doi:10.1590/1678-4685-gmb-2016-0032

Cited by 23 publications

(13 citation statements)

References 57 publications

(20 reference statements)

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“…The gene frequency is highest in West African countries with 1 in 4 to 3 (25–30%) being carriers of HbS compared to 1/400 African Americans and is variable in European populations [ 14 , 15 , 16 ]. The prevalence of SCD in developed countries is increasing partly due to migration from high prevalent countries [ 17 , 18 , 19 , 20 ]. It is estimated that over 14,000 people live with SCD in the UK, similar to France, while countries like Italy, Germany have seen increasing numbers from Africa [ 21 , 22 , 23 , 24 ].…”

Section: Epidemiologymentioning

confidence: 99%

Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment

Inusa

Hsu

Kohli

et al. 2019

IJNS

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Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain. Phenotypic variation in the clinical presentation and disease outcome is a characteristic feature of the disorder. Understanding the pathogenesis and pathophysiology of the disorder is central to the choice of therapeutic development and intervention. In this special edition for newborn screening for haemoglobin disorders, it is pertinent to describe the genetic, pathologic and clinical presentation of sickle cell disease as a prelude to the justification for screening. Through a systematic review of the literature using search terms relating to SCD up till 2019, we identified relevant descriptive publications for inclusion. The scope of this review is mainly an overview of the clinical features of pain, the cardinal symptom in SCD, which present following the drop in foetal haemoglobin as young as five to six months after birth. The relative impact of haemolysis and small-vessel occlusive pathology remains controversial, a combination of features probably contribute to the different pathologies. We also provide an overview of emerging therapies in SCD.

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Section: Epidemiologymentioning

confidence: 99%

Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment

Inusa

Hsu

Kohli

et al. 2019

IJNS

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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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“…In comparison, even with the severe form of the disease, SCA patients have a life expectancy in the UK of 67 years, with 94% childhood survival rates for uncomplicated SCD (Quinn et al, 2010;Gardner et al, 2016). Migration has distributed SCD worldwide, highlighting healthcare inequalities, where the transition from acute to chronic settings remains limited to high-income countries (Piel et al, 2013b;Lindenau et al, 2016).…”

Section: Incidence Burden and Screeningmentioning

confidence: 99%

In utero Therapy for the Treatment of Sickle Cell Disease: Taking Advantage of the Fetal Immune System

Cortabarria

Makhoul

Strouboulis

et al. 2021

Front. Cell Dev. Biol.

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Sickle Cell Disease (SCD) is an autosomal recessive disorder resulting from a β-globin gene missense mutation and is among the most prevalent severe monogenic disorders worldwide. Haematopoietic stem cell transplantation remains the only curative option for the disease, as most management options focus solely on symptom control. Progress in prenatal diagnosis and fetal therapeutic intervention raises the possibility of in utero treatment. SCD can be diagnosed prenatally in high-risk patients using chorionic villus sampling. Among the possible prenatal treatments, in utero stem cell transplantation (IUSCT) shows the most promise. IUSCT is a non-myeloablative, non-immunosuppressive alternative conferring various unique advantages and may also offer safer postnatal management. Fetal immunologic immaturity could allow engraftment of allogeneic cells before fetal immune system maturation, donor-specific tolerance and lifelong chimerism. In this review, we will discuss SCD, screening and current treatments. We will present the therapeutic rationale for IUSCT, examine the early experimental work and initial human experience, as well as consider primary barriers of clinically implementing IUSCT and the promising approaches to address them.

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The effects of old and recent migration waves in the distribution of HBB*S globin gene haplotypes

Cited by 23 publications

References 57 publications

Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment

Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment

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

In utero Therapy for the Treatment of Sickle Cell Disease: Taking Advantage of the Fetal Immune System

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