Haemoglobin gene frequencies in the Jamaican population: a study in 100,000 newborns

Serjeant, G. R.; Serjeant, B. E.; Forbes, M.; Hayes, Richard; Higgs, Douglas R.; Lehmann, H.

doi:10.1111/j.1365-2141.1986.tb04117.x

Cited by 117 publications

(85 citation statements)

References 17 publications

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“…Homozygosity for a + thalassaemia occurred in seven (12%), heterozygosity in 22 (39%), a normal a-globin gene number in 26 (46%) and triplication on a chromosome giving 5 a-globin genes in two subjects. Corresponding figures for the prevalence in the cohort study were 9 (3.3%), 90 (33.3%), 171 (63.3%) and zero (Serjeant et al, 1986) indicating a significant excess of a-thalassaemia genes among the elderly survivors after excluding the two subjects with triplication of the a-globin genes (v 2 = 10.7, P = 0.005).…”

Section: Genetic Factors A-globin Gene Numbermentioning

confidence: 92%

The changing face of homozygous sickle cell disease: 102 patients over 60 years

Serjeant¹,

Serjeant²,

Mason³

et al. 2009

Int J Lab Hematology

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Summary Earlier reports on homozygous sickle cell (SS) disease have been biased by severely affected cases. The Jamaican clinic which seeks to avoid such bias has 102 patients surviving beyond 60 years. The objective of this study was to examine the features of elderly cases and assess factors determining survival and the behaviour of this disease with advancing age. A retrospective review of all cases and prospective assessment in survivors was conducted at The Sickle Cell Clinic at the University of the West Indies, Kingston, Jamaica previously operated by the MRC Laboratories. All patients with SS disease born prior to December 31, 1943 who would, by January 2004, have passed their 60th birthday were traced and their current status ascertained. The molecular and clinical features were assessed and observations on the clinical behaviour of the disease and of haematology and biochemistry are presented. Of the 102 patients, 58 had died, four had emigrated and 40 were alive, resident in Jamaica and aged 60–87 years. Survival was associated with female gender and higher foetal haemoglobin but not with alpha‐thalassaemia or beta‐globin haplotype. A tendency to familial clustering among elderly survivors did not reach statistical significance. Painful crises ameliorated with age and there was a benign course in pregnancy. Mean haemoglobin levels fell with age and were generally associated with rising creatinine levels indicating the importance of renal failure. Elderly survivors present some features of intrinsic mildness but also manifest age‐related amelioration of painful crises and falling haemoglobin levels from progressive renal damage.

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Section: Genetic Factors A-globin Gene Numbermentioning

confidence: 92%

The changing face of homozygous sickle cell disease: 102 patients over 60 years

Serjeant¹,

Serjeant²,

Mason³

et al. 2009

Int J Lab Hematology

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“…6 Jamaica's first experience with newborn screening occurred from 1973 to 1981 with the development of the well-described Jamaican Sickle Cell Cohort Study. 3,7 In this study, 100,000 consecutive live births were screened at the main Government Maternity Hospital (Victoria Jubilee Hospital, Kingston). A total of 315 babies with Hb SS disease were detected, of whom eight failed to be admitted to the study.…”

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confidence: 99%

Newborn sickle cell disease screening: the Jamaican experience (1995–2006)

et al. 2007

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Objectives: The aim of this study was to evaluate the existing newborn sickle haemoglobinopathy screening programme in Jamaica. Methods: A retrospective analysis of infants screened during the period 8 November 1995 to 22 July 2006 was performed. Patient data for analyses was restricted to patients with homozygous (Hb SS) sickle cell disease. Published data from the Jamaican Sickle Cell Cohort Study was used to make comparisons with the study sample. Results: The study sample consisted of 435 patients with Hb SS disease. Acute chest syndrome was the most common clinical (non-death) event accounting for ∼50% of all events. Acute splenic sequestration, no longer a significant cause of mortality, was responsible for ∼32% of clinical events. Seven deaths (1.8%) occurred during the study period compared with 17.6% to the same age in the Jamaican Sickle Cell Cohort Study. There was a lower proportion of hospital admissions and episodes of serious illness in the study group compared with controls. Conclusions: Survival estimates for the study sample showed improvement compared with the Jamaican Sickle Cell Cohort Study. This study continues to demonstrate the benefits of, and as such shows support for, newborn screening and early interventions in sickle cell disease. In addition, it highlights some of the areas for continued focus and research development. Although the current system is providing an essential and beneficial service, the study emphasizes the need for newborn screening programmes to be comprehensive care systems to be fully effective.

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“…The beta-thalassaemia trait has been estimated to occur in 1.5% of Jamaican newborns in Kingston, approximately 1.0% with beta + thalassaemia and 0.5% with beta°t halassaemia (Serjeant et al 1986). These figures were projected from a relatively small sample of subjects with sickle cell-beta + and sickle cell-beta°thalassaemia and the prevalence had wide confidence intervals.…”

Section: Discussionmentioning

confidence: 99%

“…Iron deficiency, based on an MCH≤26 pg and an RDW≥ 18.0, accounted for 2.8% of the overall group and 14.2% of those with MCH values≤26 pg. Heterozygotes and homozygotes for alpha thalassaemia account for 31% and 2%, respectively of those with an AA phenotype and for 34% and 3% of those with SS disease in Kingston newborns (Serjeant et al 1986). The prevalence of alpha thalassaemia is not available in this Manchester population but inferring from the data collected in Kingston, it is likely that either iron deficiency or alpha thalassaemia accounts for approximately half the subjects with low MCH values.…”

Section: Discussionmentioning

confidence: 99%

Screening for the beta-thalassaemia trait: hazards among populations of West African Ancestry

et al. 2011

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The aim of this study was to examine the accuracy and characteristics of detecting the betathalassaemia trait in populations of West African ancestry. School children, aged 16-19 years, in Manchester Parish, Jamaica were screened to detect the genes which could give rise to offspring with sickle cell disease. Haematological indices and HbA 2 levels in subjects with an MCH≤26 pg and an RDW<18.0 with DNA analysis in those with indices consistent with the beta thalassaemia trait were measured. The performance of published discriminant indices in distinguishing iron deficiency and betathalassaemia trait in this population was assessed. Of 10,148 subjects, 1,739 (17.1%) had an AA haemoglobin phenotype and red cell indices consistent with betathalassaemia (MCH values≤26 pg, RDW<18.0) requiring estimations of HbA 2 levels. HbA 2 levels were ≥3.5% in 112 and beta-thalassaemia mutations were identified in 77 of these including the −88 C>T mutation in 35 (45%), −29 A>G in 19 (25%), −90 C>T in 7 (9%), the IVS II-849 A>G in 5 (6%) with smaller contributions from five other mutations. Discriminant indices performed poorly in the differentiation of iron deficiency and the beta-thalassaemia trait. Detection of the beta-thalassaemia trait is relatively insensitive in populations of West African ancestry partly because of the mild defects characterising beta-thalassaemia in this population and also the high prevalence of deletional alpha thalassaemia. More sensitive indicators are required for beta-thalassaemia detection to inform such populations at risk of offspring with sickle cell disease.

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Haemoglobin gene frequencies in the Jamaican population: a study in 100,000 newborns

Cited by 117 publications

References 17 publications

The changing face of homozygous sickle cell disease: 102 patients over 60 years

The changing face of homozygous sickle cell disease: 102 patients over 60 years

Newborn sickle cell disease screening: the Jamaican experience (1995–2006)

Screening for the beta-thalassaemia trait: hazards among populations of West African Ancestry

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