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A descriptive profile of β-thalassaemia mutations in India, Pakistan and Sri Lanka.

ABSTRACT: Thalassaemia is a common and debilitating autosomal recessive disorder affecting many populations in South Asia. To date, efforts to create a regional profile of β-thalassaemia mutations have largely concentrated on the populations of India. The present study updates and expands an earlier profile of β-thalassaemia mutations in India, and incorporates comparable data from Pakistan and Sri Lanka. Despite limited data availability, clear patterns of historical and cultural population movements were observed relating to major β-thalassaemia mutations. The current regional mutation profiles of β-thalassaemia have been influenced by historical migrations into and from the Indian sub-continent, by the development and effects of Hindu, Buddhist, Muslim and Sikh religious traditions, and by the major mid-twentieth century population translocations that followed the Partition of India in 1947. Given the resultant genetic complexity revealed by the populations of India, Pakistan and Sri Lanka, to ensure optimum diagnostic efficiency and the delivery of appropriate care, it is important that screening and counselling programmes for β-thalassaemia mutations recognise the underlying patterns of population sub-division throughout the region.

SUBMITTER: Black ML

PROVIDER: S-EPMC3185991 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature

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A descriptive profile of β-thalassaemia mutations in India, Pakistan and Sri Lanka.

Black M L ML Sinha S S Agarwal S S Colah R R Das R R Bellgard M M Bittles A H AH

Journal of community genetics 20100901 3

Thalassaemia is a common and debilitating autosomal recessive disorder affecting many populations in South Asia. To date, efforts to create a regional profile of β-thalassaemia mutations have largely concentrated on the populations of India. The present study updates and expands an earlier profile of β-thalassaemia mutations in India, and incorporates comparable data from Pakistan and Sri Lanka. Despite limited data availability, clear patterns of historical and cultural population movements wer ...[more]

PMID: 22460247

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Project description:BACKGROUND:Thalassaemia is a chronic disease which requires lifelong treatment in a majority. Despite recent advances in the medical care, minimal attempts are made to improve psychological health in these patients. In this study, we aim to describe the psychological morbidity in patients with transfusion dependent β-thalassaemia and their mothers in Sri Lanka. METHODS:This case control study was conducted in the three largest thalassaemia centres of Sri Lanka. All patients with transfusion dependent β-thalassaemia aged 4-18 years were recruited as cases whilst a randomly selected group of children without chronic diseases were recruited as controls. Psychological morbidity of children was assessed using the Strengths and Difficulties Questionnaire and depressive symptoms of mothers was assessed by the Centre for Epidemiological Studies Depression Scale. RESULTS:288 transfusion dependent β-thalassaemia patients and equal number of controls were recruited. Abnormal emotional, conduct, hyperactivity and peer relationship symptom scores were reported by 18%, 17%, 9% and 14% of patients with thalassaemia respectively. Prevalences of abnormal psychological symptom scores in all domains were significantly higher among patients compared to controls. Abnormal conduct symptoms were significantly more prevalent among patients with HbE β-thalassaemia and those with suboptimal pretransfusion haemoglobin levels, lower transfusion volumes, hypothyroidism and undernutrition. Short stature was associated with abnormal emotional and hyperactivity scores. Depressive symptoms were significantly higher among mothers of patients with thalassaemia. Higher depressive symptom scores in mothers were significantly associated with abnormal emotional, conduct and peer relationship symptom scores in children. CONCLUSIONS:A higher proportion of patients with transfusion dependent β-thalassaemia had abnormal psychological symptom scores. Abnormal conduct symptoms were more prevalent among patients with HbE β-thalassaemia, those who were inadequately transfused and having hypothyroidism and undernutrition. Mothers of the children with transfusion dependent β-thalassaemia had significantly higher depressive symptoms which were significantly associated with psychological symptoms among children.

Project description:BackgroundMalaria was eliminated from Sri Lanka in 2012, and since then 50-60 imported malaria cases have been reported yearly. The country has remained malaria-free since, except for a single case of indigenous malaria in 2018. Blood donors are routinely screened for malaria, and transfusion malaria has not been reported in the country since 1966.Case presentationA 17-year-old splenectomized beta thalassaemia patient developed a transfusion-induced Plasmodium falciparum malaria infection following a blood transfusion 18 days earlier. The blood donor was an armed forces personnel who returned from South Sudan following a United Nations peace-keeping mission. The blood recipient's malaria infection took a complicated clinical course with elevated liver enzymes, lowered blood pressure and a prolonged parasite clearance time of 7 days but he recovered fully after two courses of artemether-lumefantrine interrupted by a course of intravenous artesunate. The prolonged parasite clearance is likely due to lack of splenic clearance of dead or damaged intra-erythrocytic parasites (due to a splenectomy) rather than to the parasite strain being resistant to artemisinin or the partner drug. This is corroborated by the fact that the blood donor's infection responded to artemether-lumefantrine with parasites being cleared on day 3. The blood donor who had not displayed signs or symptoms of malaria, had been screened for malaria on arrival in Sri Lanka and was negative on both microscopy and RDT. At the point of blood donation a blood smear examined microscopically was also reported negative for malaria, but retrospectively, the preserved smear of the donor's blood was found to contain P. falciparum parasites at a very low density. The donor when tested after the transfusion-induced case was diagnosed, also tested positive for malaria and was treated.ConclusionsAfter malaria elimination, transfusion-induced malaria from blood donors returning from malaria endemic countries poses a threat to preventing the re-establishment of the disease. Improved surveillance of arrivals in Sri Lanka from malaria endemic countries using more sensitive methods for screening than microscopy may be required to reduce this risk. More stringent criteria for selecting blood donors, and more effective methods of screening donors for malaria than microscopy may also be necessary.

Project description:BackgroundWorldwide, haemoglobin E β-thalassaemia is the most common genotype of severe β-thalassaemia. The paucity of long-term data for this form of thalassaemia makes evidence-based management challenging. We did a long-term observational study to define factors associated with survival and complications in patients with haemoglobin E thalassaemia.MethodsIn this prospective, longitudinal cohort study, we included all patients with haemoglobin E thalassaemia who attended the National Thalassaemia Centre in Kurunegala, Sri Lanka, between Jan 1, 1997, and Dec 31, 2001. Patients were assessed up to three times a year. Approaches to blood transfusions, splenectomy, and chelation therapy shifted during this period. Survival rates between groups were evaluated using Kaplan-Meier survival function estimate curves and Cox proportional hazards models were used to identify risk factors for mortality.Findings109 patients (54 [50%] male; 55 [50%] female) were recruited and followed up for a median of 18 years (IQR 14-20). Median age at recruitment was 13 years (range 8-21). 32 (29%) patients died during follow-up. Median survival in all patients was 49 years (95% CI 45-not reached). Median survival was worse among male patients (hazard ratio [HR] 2·51, 95% CI 1·16-5·43), patients with a history of serious infections (adjusted HR 8·49, 2·90-24·84), and those with higher estimated body iron burdens as estimated by serum ferritin concentration (adjusted HR 1·03, 1·01-1·06 per 100 units). Splenectomy, while not associated with statistically significant increases in the risks of death or serious infections, ultimately did not eliminate a requirement for scheduled transfusions in 42 (58%) of 73 patients. Haemoglobin concentration less than or equal to 4·5 g/dL (vs concentration >4·5 g/dL), serum ferritin concentration more than 1300 μg/L (vs concentration ≤1300 μg/L), and liver iron concentration more than 5 mg/g dry weight of liver (vs concentration ≤5 mg/g) were associated with poorer survival.InterpretationPatients with haemoglobin E thalassaemia often had complications and shortened survival compared with that reported in high-resource countries for thalassaemia major and for thalassaemia intermedia not involving an allele for haemoglobin E. Approaches to management in this disorder remain uncertain and prospective studies should evaluate if altered transfusion regimens, with improved control of body iron, can improve survival.FundingWellcome Trust, Medical Research Council, US March of Dimes, Anthony Cerami and Ann Dunne Foundation for World Health, and Hemoglobal.

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A descriptive profile of β-thalassaemia mutations in India, Pakistan and Sri Lanka.

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A descriptive profile of β-thalassaemia mutations in India, Pakistan and Sri Lanka.

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