Acute splenic sequestration in HbSS: observations from the Jamaican birth cohort.

Objective: To document the prevalence, clinical features, haematology and outcome of acute splenic sequestration (ASS) in homozygous sickle cell disease (HbSS).

Study Design: A cohort study from birth.

Setting: The Medical Research Council Laboratories at the University of the West Indies, Kingston, Jamaica.

The beta thalassaemia trait in Jamaica.

The objective of this study was to review the prevalence and features of the beta thalassaemia trait in Jamaican populations. Screening of 221,306 newborns over the last 46 years has given an indication of the distribution and prevalence of beta thalassaemia genes, and screening of 16,612 senior school students in Manchester parish, central Jamaica, has provided their haematological features. The prevalence of the beta thalassaemia trait predicted from double heterozygotes was 0.

Newborn screening for abnormal haemoglobins in Jamaica: Practical issues in an island programme.

Objective: To report the diagnostic challenges of newborn screening for abnormal haemoglobins.

Setting: Cord blood samples from 13 hospitals in southwest Jamaica taken in 2008-2019.

Methods: Blood spots, collected from the umbilical cord, were analysed by high pressure liquid chromatography (HPLC) to reveal phenotypes for HbSS and HbCC, but genotype confirmation may require parental studies or gene sequencing.

Retained Splenic Function in an Indian Population with Homozygous Sickle Cell Disease May Have Important Clinical Significance.

Background And Objectives: To determine whether the persistence of splenomegaly characteristic of the Asian haplotype of homozygous sickle cell (SS) disease is associated with continued splenic function, a comparison of patients from Odisha, India, and Jamaica.

Materials And Methods: Indian patients were examined in a cross-sectional study and compared with the Jamaican Cohort Study from birth. Splenomegaly was assessed in both populations with standard methods.

The haematology of Jamaicans: red cell indices in HbAA, HbAS, HbAC, and HbA-HPFH genotypes.

Based in the parish of Manchester in central Jamaica, the Manchester Project offered free detection of haemoglobin genotype to senior classes in 15 secondary schools between 2008 and 2013. Restricting the database to 15,103 students aged 15.0-19.

Odisha Revisited: A Personal Account.

In 1986, a paper in the Lancet was the first to collate hematology, molecular findings, and clinical features of homozygous sickle cell (SS) disease in India. The paper came from the group organized by Professor Bimal Kar in Burla Medical College, Sambalpur University, in western Odisha. Although widely quoted, few readers will be aware of the history of this work that is now attached in an informal summary.

β-Thalassemia Mutations in Jamaica: Geographic Variation in Small Communities.

Over the last 43 years, surveys of over 200,000 subjects in Jamaica have identified β-thalassemia (β-thal) mutations. In most, these genes were detected at birth in patients with sickle cell-β-thal and so the prevalence and distribution would not be influenced by subsequent clinical course. There were two newborn populations, 100,000 deliveries in the corporate area between 1973-1981 and 84,940 in south and western Jamaica between 2008-2016.

Causes of death and early life determinants of survival in homozygous sickle cell disease: The Jamaican cohort study from birth.

Globally, the majority of persons born with sickle cell disease do not have access to hydroxyurea or more expensive interventions. The objectives were to estimate the survival in homozygous sickle cell disease, unbiased by symptomatic selection and to ascertain the causes of death in a pre-hydroxyurea population. The utility of early life biomarkers and genetically determined phenotypes to predict survival was assessed.

A Plea for the Newborn Diagnosis of Hb S-Hereditary Persistence of Fetal Hemoglobin.

The gene for hereditary persistence of fetal hemoglobin (HPFH) in the Caribbean is much more common than previously estimated. To avoid labeling persons with the benign syndrome Hb S (HBB: c.20A>T)/HPFH as a disease and wasting scarce resources, parental studies are recommended when newborn screening reveals a pattern consistent with an SS phenotype.

Voluntary premarital screening to prevent sickle cell disease in Jamaica: does it work?

To determine whether identifying haemoglobin genotype, and providing education and counselling to senior school students will influence their choice of partner and reduce the frequency of births with sickle cell disease. The Manchester Project provided free voluntary blood tests to determine haemoglobin genotype to the fifth and sixth forms (grades 11-13), median age of 16.7 years, of all 15 secondary schools in the parish of Manchester in south central Jamaica.

Newborn screening for sickle cell disease in Jamaica: logistics and experience with umbilical cord samples.

The study aims to describe the logistics and results of a programme for newborn screening for sickle cell disease based on samples from the umbilical cord. Samples were dried on Guthrie cards and analysed by high pressure liquid chromatography. All suspected clinically significant abnormal genotypes were confirmed by age 4-6 weeks with family studies and then recruited to local sickle cell clinics.

Newborn Screening for Sickle Cell Disease: Jamaican Experience.

Objectives: To review the history of newborn screening for sickle cell disease with especial reference to Jamaica.

Methods: A summary was done of the history, the development of associated laboratory technology and the implementation of newborn screening for sickle cell disease in Jamaica.

Results: Screening was initiated at Victoria Jubilee Hospital, Kingston from 1973-1981, reactivated in 1995 and extended to the University Hospital of the West Indies in 1997 and to Spanish Town Hospital in 1998.

Prevention of sickle cell disease: observations on females with the sickle cell trait from the Manchester project, Jamaica.

Screening for haemoglobin genotype was offered to senior school students in Manchester parish in south central Jamaica to test whether this knowledge would influence choice of partner and reduce births with sickle cell disease. Over six academic years, 15,539 students, aged mostly 15-19 years, were screened with voluntary compliance rising from 56 to 92 % over this period. All subjects were given permanent genotype cards and carriers of abnormal genes were offered counselling which explained the reproductive options but avoided recommendations.

Iron Deficiency among Jamaican Adolescents.

Objectives: To raise awareness of significant iron deficiency anaemia occurring in Jamaican secondary school students.

Methods: Haematological screening of students in the fifth and sixth forms of 14 secondary schools in the parishes of Manchester and Clarendon, Jamaica, was done. Samples were subject to haemoglobin electrophoresis, examination of haematological indices, and haemoglobin, alpha 2 (HbA2) levels where indicated.

Homozygous sickle cell disease in Uganda and Jamaica a comparison of Bantu and Benin haplotypes.

Objective: To compare the haematological and clinical features of homozygous sickle cell (SS) disease in Bantu and Benin haplotypes in a cross-sectional study of 115 Ugandan patients attending the Sickle Cell Clinic at Mulago Hospital, Kampala, Uganda, with 311 patients in the Jamaican Cohort Study

Methods: This involved comparison of clinical features and haematology with special reference to genetic determinants of severity including fetal haemoglobin levels, beta-globin haplotype and alpha thalassaemia status.

Results: The Bantu haplotype accounted for 94% of HbS chromosomes in Ugandan patients and the Benin haplotype for 76% of HbS chromosomes in Jamaica. Ugandan patients were marginally more likely to have alpha thalassaemia, had similar total haemoglobin and fetal haemoglobin levels but had higher reticulocyte counts and total bilirubin levels consistent with greater haemolysis.

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

The aim of this study was to examine the accuracy and characteristics of detecting the beta-thalassaemia 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.

Hb S-β-thalassemia: molecular, hematological and clinical comparisons.

Clinical and hematological features are presented for 261 patients with identified β-thalassemia (β-thal) mutations. Mutations causing Hb S [β6(A3)Glu→Val]-β(0)-thal were IVS-II-849 (A>G) in 44%, frameshift codon (FSC) 6 (-A) in 14%, Hb Monroe [β30(B12)Arg→Thr] in 14%, and IVS-II-1 (G>A) in 10%. Mutations causing Hb S-β(+)-thal with 14-25% Hb A (type III) were -29 (A>G) mutation in 60%, -88 (C>T) in 22% and the polyadenylation signal site (polyA) (T>C) mutation in 14%, and in Hb S-β(+)-thal with 1-7% Hb A (type I), all had the IVS-I-5 (G>C) mutation.

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

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.

Leg ulceration in sickle cell disease: medieval medicine in a modern world.

Leg ulceration is now recognized as an important complication of sickle cell disease, especially of the SS genotype. Since there is no convincing evidence of delayed healing of operation scars or of wounds elsewhere in the body, it must be concluded that factors specific to the lower leg render patients prone to delayed healing at this site. Many lesions are traumatic in origin and since there is considerable variation in healing rates among the normal population, it is useful to define chronic leg ulceration on the basis of a minimal duration, which in Jamaican studies has required at least 3 months and sometimes 6 months before healing.

Sickle haemoglobin and haemoglobin Stanleyville II: possible confusion with sickle cell-haemoglobin C disease.

Objectives: To bring to the attention of East African practitioners, the characteristics of Hb Stanleyville II, its interaction with HbS, and the resemblance of the double heterozygote to sickle cell-haemoglobin C (SC) disease.

Data Sources: A prospective study of 100 patients with Sickle Cell (SS) disease in the steady state attending the sickle cell Clinic at Mulago Hospital, Kampala, Uganda.

Study Selection: Out of 100 patients with SS disease, two were also heterozygous for an alpha chain variant identified as Hb Stanleyville II.

Newborn screening for sickle cell disease in Brazil: the Campinas experience.

Newborn screening for sickle cell disease commenced in 1992 in Sao Paulo State and by the end of 2000, the programme covered 78 institutions in 36 municipalities with the screening of 281,884 babies. Initially based on liquid cord blood samples, these are being replaced by dried filter paper capillary samples to ease handling and avoid diagnostic confusion from maternal contamination. The prevalence of sickle cell trait (2.