Thalass. Rep., Volume 4, Issue 1 (April 2014) – 6 articles

Thalassemia major is a genetic disorder and blood transfusion is critical for survival in these patients. Over the course of the past three decades, hyper transfusion therapy in these patients has shown has dramatically extended life expectancy and improved quality of life. Unfortunately, this type of therapy also increased the incidence of complications due to iron overload. The aim of this study was to assess bone mineral density (BMD) in patients with β-thalassemia major and to determine their biochemical and hormonal profiles that may affect BMD. A cross- sectional study was carried out in Sanjay Gandhi—PGIMS, a tertiary care hospital over period of 3 years on all β-thalassemia major patients above 7 years receiving regular transfusion. Patients with transfusion dependent anaemia other than β thalassemia major were excluded. Physical examination, laboratory tests and bone density measurements were performed. Then, the data were analyzed. The total number of children over 7 years of age with β-thalassemia major receiving regular blood transfusions during the study period was 150. Mean hemoglobin was 7.8 ± 0.6 g/dL and the mean serum ferritin level 5295 ± 2736 ng/mL. Short stature was seen in 54.7% boys and 28.7% of girls. Prevalence of lumbar osteoporosis and osteopenia were 42.5% and 37.5%. Femoral osteoporosis and osteopenia were present in 32.5% and 55% of the patients. Impaired puberty, hypothyroidism, diabetes mellitus, hypoparathyroidism were observed in 26%, 18%, 7%, and 15%, of patients, respectively. Nearly 75% of patients had low bone mineral density. Bone mineral density was significantly associated with short stature (p = 0.002), hypogonadism (p = 0.006), hypoparathyroidism (p = 0.038), hypothyroidism (p = 0.044) and vitamin D deficiency (p < 0.001). High prevalence of complications among our thalassemics signifies the importance of more detailed studies along with therapeutic interventions. Full article

Hemoglobinopathies (HBP) are the most common genetic disorder in Oman and are in need of prevention programs due to the high incidence of β-thalassemia major and sickle cell disease. Prenatal diagnosis (PD) and selective pregnancy termination is shown to be the most effective prevention tool for the control of HBP. However, PD is not available in Oman thus far because abortion is subject to religious, cultural and ethical issues. We have examined the attitude of a number of Omani HBP carrier couples towards prenatal diagnosis and selective abortion. We have interviewed 35 couples at risk visiting the main premarital clinic in Muscat between Jan 2011 and Jan 2012. Couples were interviewed using a pre-structured questionnaire. The majority would have accepted prenatal diagnosis (94%) if the service would be available in the country but pregnancy termination was greatly influenced by religious values. Full article

The β-thalassemia syndromes and hemoglobin disorders are the major genetic and public health challenges in Central India. In view of dubious credit of the highest infant mortality rate in Madhya Pradesh (62 as against 47 per 1000 live-births of India in 2011) it was presumed that carrier couples of β-thalassemia disorders might be one of the contributing factors to high mortality. A total of 280 couples including their offspring with at least one affected and/or suspected case of β-thalassemia/sickle cell disorders referred to our Centre from a tertiary hospital, Jabalpur during March 2010 to February 2013 were consecutively studied as matched case controls. Out of 280 couples, 200 were found normal and 80 couples had different β-thalassemia disorders. β-thalassemia carrier couples had significantly higher relative fertility (mean number of conceptions, i.e., 2.457 versus 1.480), higher infant mortality (3.5% versus 1.3%), higher below 10 years mortality (7.0% versus 2.7%) and lower surviving offspring (925.9 versus 970.6) than of controls. Still-births were three times lower (12.3), neonatal deaths almost two folds higher (24.7), three folds higher infant mortality (37.0) and almost three times higher below 10 years mortality per 1000 live-births were observed in carriers of β-thalassemia major than in controls. The present study indicated that afflicted couples of these hereditary disorders are increasing the afflicted offspring, being 60.7% surviving against controls (39.3%). This increased production of afflicted (heterozygous and homozygous) offspring leads to increased morbidity and mortality and might be contributing towards increased neonatal/infant mortality in Madhya Pradesh of Central India. As a preventive measure, affected families were imparted genetic/marriage counseling. Full article

Changing the care along with improved treatment, have altered the life of thalassemia patients, one of the world’s most common genetic diseases (Thalassemia International Federation; http://www.thalassemia.org.cy). The new demography of the disease, with its widely variable phenotypes, has implications for its diagnosis, counseling, and management. Improved of the new treatment of this ancient disease is essential for optimizing survival. From June 2010 to January 2011, we interviewed 36 people with thalassemia from a primary care in Messina (Center of Genetics and Immunology). The aim of this study is to show the results of a survey conducted in this Center in Messina. This study shows the importance of influence of a multidisciplinary approach, medical, psychological and social, that addresses the changing treatment and epidemiology of thalassemia in order to ensure a better quality of life and survival. Understanding the influence of all three types of resources, medical, psychological and social, is critical for constructing ways to enhance health capability, chronic disease self-management, and health. Full article

Hemoglobinopathies, common genetic disorders of hemoglobin, can be prevented by population screening and genetic counseling. Identification of these disorders is immensely important epidemiologically and aid in prevention of more serious hemoglobin disorders. Thalassemia is the commonest monogenic disorder in India, which belongs to the thalassemia belt of the world. The present study was undertaken to find out the characteristics of β-thalassemia trait and spectrum of this disorder among the rural population, screened under the hospital-based screening program in West Bengal, a state in eastern part of India. This study was carried out in school and college students, newly married couples and pregnant women after proper counseling in the rural areas of five southern districts of this state. Blood samples were tested by high-performance liquid chromatography. Total 1429 β-thalassemia traits were detected by random screening from this population. The mean value of HbA2 of the study population, having β-thalassemia trait is 4.9%. The prevalence (10.5%) of β-thalassemia trait in West Bengal is higher than other parts of the country. These data are likely to help us in future planning for screening programmes in rural areas of West Bengal, India. Full article

Hemoglobin (Hb) D Punjab is one of the most commonly observed abnormal hemoglobinopathy worldwide. There was no systematic large published study to investigate the characteristic of Hb D Punjab trait in India. This study was conducted in school and college students, newly married couples and pregnant women after proper counseling in the rural areas of West Bengal state in eastern India. Complete blood count was done by Sysmax Automated Hematology Analyzer KX 21 (Sysmex Corp., Kobe, Japan) and thalassemia testing was done using high-performance liquid chromatography (Variant TM - Bio-Rad Lab., Hercules, CA, USA). A total of 46,139 individuals were screened for hemoglobinopathies. Hb D trait was found in 0.35%. Hypochromia rather than microcytosis is consistent finding in Hb D trait. Anisocytosis is absent in Hb D trait. In almost all (99.37%) cases, Hb D is within 40% of total hemoglobin. This data is likely to be helpful for screening of hemoglobinopathy in resource poor setting. Full article