Prevalence of common hemoglobin variants in an afro-descendent Ecuadorian population

Domínguez, Yamila; Zurita, Camilo; Calvopina, Diego A.; Villacís, Jacqueline; Mora, Marcelo

doi:10.1186/1756-0500-6-132

Cited by 7 publications

(4 citation statements)

References 12 publications

(27 reference statements)

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“…Our finding is consistent with a 2.0% SC obtained in the South-West region of Nigeria [17][18]. Our study is also consistent with a 1% prevalence of HbC reported in a previous study in Ecuador, a tropical Latin-American country with an important presence of afro-descendants [32]. Haemoglobin C (HbC) is one of the commonest structural haemoglobin variants in human populations.…”

Section: Discussionsupporting

confidence: 93%

Haemoglobin electrophoretic pattern among resident in Sokoto, Nigeria

Ahmed¹,

Isaac²,

Erhabor³

et al. 2013

J Med Disord

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Background: Haemoglobinopathies are inherited disorders of haemoglobin synthesis that are responsible for significant morbidity and mortality all over the world. Communities in Africa constitute a major part of the population that is vulnerable to many erythrocytic hereditary and haematological disorders. The aim of this study was to find the prevalence/spectrum of haemoglobin variants among 400 subjects of African descent resident in Sokoto, North Western Nigeria. Methods: Standard alkaline cellulose acetate electrophoretic technique using the Shandon electrophoretic tank with tris-ethylene diamine tetracetic acid (EDTA) borate buffer was employed for the determination of abnormal haemoglobin variants. Results: Four hundred subjects of African descent with mean age of 38.4±12.8 years comprising 121 males (30.25%) and 279 (69.75%) females with a mean age 38.4±12.8 years constituted the subjects for this prospective case study. The prevalence based on age groups indicated that the prevalence of HbAA was highest in the 11-20 years age group while HbAS, HbAC, HbSC and HbSS (35%, 8.5%, 2.25%, 0.75%, and 4.25%) prevalence was highest among subjects<10 years old. The percentage distribution of different forms of haemoglobin (Hb) among the subjects was; Hb AA 280(70%); HbAS 93(23.25%); HbAC 5(1.25%); HbSC 3(0.75%) and HbSS 19(4.75%). Among the male subjects, 93(67.9%) were HbAA, 18(14.9%) were HbAS; 1(0.83%) were HbAC; 1(0.83%) were HbSC and 8(6.61%) were HbSS. Among the 279 female subjects, 187(67.02%) were HbAA, 75(28.88%) were HbAS; 4(1.43%) were HbAC; 2(0.72%) were HbSC and 11(3.94%) were HbSS. We observed that all subjects with haemoglobin SS and SC were less than 20 years of age. Conclusion: This research indicates a high prevalence of haemoglobin variants in the study population. We recommend that carrier screening and mutation identification be implemented as a preventative measure. There is need for the formulation of genetic counseling policies to provide evidenced-based information to enable prospective couples make informed decisions aimed at reducing the incidence of haemoglobinopathies in Sokoto in particular and Nigeria in general.

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Section: Discussionsupporting

confidence: 93%

Haemoglobin electrophoretic pattern among resident in Sokoto, Nigeria

Ahmed¹,

Isaac²,

Erhabor³

et al. 2013

J Med Disord

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“…Of these, hemoglobin S was the most frequently reported variant representing 14.0% of the cases. Moreover, it appears that the prevalence of hemoglobinopathies in Ecuador is higher than that reported in other Latin America countries [ 20 ]. Consistent with the present findings, prior studies have demonstrated lower hemoglobin levels among blacks of all ages even after accounting for comorbidities, behavioral risk factors, nutritional intake, and iron status [ 3 , 21 ].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Anemia among Older Adults Residing in the Coastal and Andes Mountains in Ecuador: Results of the SABE Survey

Orces

2017

Current Gerontology and Geriatrics Research

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Objectives. To estimate the prevalence of anemia and its determinants among older adults in Ecuador. Methods. The present study was based on data from the National Survey of Health, Wellbeing, and Aging. Hemoglobin concentrations were adjusted by participants' smoking status and altitude of residence, and anemia was defined according to the World Health Organization criteria (<12 g/dL in women and <13 g/dL in men). Gender-specific logistic regression models were used to examine the association between demographic and health characteristics and anemia. Results. A total of 2,372 subjects with a mean age of 71.8 (SD 8.2) years had their hemoglobin measured, representing an estimated 1.1 million older adults. The crude prevalence of anemia was 20.0% in women and 25.2% in men. However, higher anemia prevalence rates were seen with advancing age among black women and subjects residing in the urban coast. Likewise, certain health conditions such as hypoalbuminemia, cancer in men, chronic kidney disease, iron deficiency, and low grade inflammation were associated with increased odds of having anemia. Conclusions. Anemia is a prevalent condition among older adults in Ecuador. Moreover, further research is needed to examine the association between anemia and adverse health-related outcomes among older Ecuadorians.

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“…CE is one of the most common techniques for haemoglobinopathy testing and has been used in prevention and control programmes of haemoglobinopathies 19–22. In this study, the characteristics of Hb Akron with different forms of CE were described for the first time, which is particularly important for screening and diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family

Wang

Shang

et al. 2022

J Clin Pathol

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AimsHb Akron (HBB:c.158A>T) is a rare β-chain variant and many characteristics about its clinical features still remain unclear. In this study, we aimed to explore the molecular and haematological characterisations of previously undescribed states for Hb Akron associated with different forms of thalassaemia.MethodsHaematology and genetic analysis were performed in 9 members from a Chinese Zhuang ethnic family.ResultsHb Akron in various combinations with β0-thalassaemia and α0-thalassaemia were identified and characterised. Simple heterozygote for Hb Akron is asymptomatic, while the compound heterozygotes of Hb Akron associated with the β0-thalassaemia mutation generates a more severe haematological phenotype than Hb Akron or β0-thalassaemia mutation seen in isolation. The specific peak of Hb Akron appears at Zone D (195–225 s) in the state of heterozygote and compound heterozygote on haemoglobin capillary electrophoresis device, and the reduction of Hb Akron level in heterozygotes is proportional to the degree of α-globin gene deficiency.ConclusionsWe have for the first time described the genetic and haematological characteristics of Hb Akron combined with different thalassaemia mutations, which will provide useful information for genetic counselling and prenatal diagnostic service of this mutation in a population with high prevalence of thalassaemia.

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Prevalence of common hemoglobin variants in an afro-descendent Ecuadorian population

Cited by 7 publications

References 12 publications

Haemoglobin electrophoretic pattern among resident in Sokoto, Nigeria

Haemoglobin electrophoretic pattern among resident in Sokoto, Nigeria

Prevalence of Anemia among Older Adults Residing in the Coastal and Andes Mountains in Ecuador: Results of the SABE Survey

Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family

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