Thalass. Rep., Volume 3, Issue 1 (December 2013) – 6 articles

In patients with β-thalassemia iron overload that leads to damage to vital organs is observed. Glutathione S transferase (GST) enzymes have an antioxidant role in detoxification processes of toxic substances. This role is determined genetically. In this study, we correlated GSTT1 and GSTM1 genotypes with iron overload measured with direct and indirect non-invasive methods; in particular, we used serum ferritin and signal intensity of the magnetic resonance image (MRI) in 42 patients with β-thalassemia, which were regularly subjected to chelation and transfusion therapy. Multiplex polymerase chain reaction was used to determine the genotype. The loss of both alleles leads to a decreased value of liver and heart MRI-signal intensity with a consequent iron accumulation in these organs; the loss of only one allele doesn’t lead to relevant overload. Serum ferritin doesn’t appear to be correlated to iron overload instead. Full article

The effect of splenectomy on pulmonary function test (PFT) and pulmonary hypertension (PH) in thalassemia remains unclear. We aimed to investigate PFT and their association with PH in patients with hemoglobin E/β-thalassemia stratified by their splenic status. Thirteen splenectomized patients (SP) and 12 non-splenectomized patients (NSP) were compared regarding to the PFT abnormalities and PH (mean pulmonary artery pressure from right-heart catheterization ≥25 mmHg or estimated systolic pulmonary artery pressure from echocardiography ≥40 mmHg). Eleven (84%) SP and 9 (75%) NSP had restrictive impairment (RI). Of these, more patients having severe RI in SP than in NSP (8 vs. 2, P = 0.035). FVC and PaO₂ were lower in SP than in NSP (66 ± 15% vs. 77 ± 12%, P = 0.043, and 79.38 ± 1.6 mmHg vs. 98.83 ± 6.2 mmHg, P < 0.001, respectively). Residual volume was higher in SP than in NSP (78 ± 17% vs. 64 ± 15%, P = 0.036). Seven (54%) SP who developed PH had a longer time interval between splenectomy and the onset of PH than those who did not (17 ± 4.9 years vs. 9.8 ± 6.1 years, P = 0.04). In conclusion, greater severity of extrapulmonary restrictive impairment and hypoxemia were more common in SP. These patients developed PH as a late complication unrelated to hypoxemia and PFT parameters. Full article

The current work focuses on two rare hemoglobin (Hb) variants - Hb Grange-Blanche and Hb Hofu - found for the first time in association with α-thalassemia in Eastern India. The unusual case of Hb Grange-Blanche and FS 41/42(-CTTT) mutations in cis throws light on importance of multiple mutations and its coinheritance with ααα^anti3.7 triplication indicates a possible cause for the clinical severity in β-thalassemia carriers.
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Hemoglobinopathies are the most common genetic disorders in Turkey. The incidence of beta thalassemia and sickle cell trait (HbAS) is 2.0% and 0.3% respectively. In addition to HbS, 51 abnormal hemoglobins and 42 different beta thalassemia mutations have been detected by DNA analysis. In Turkey, beta thalassemia and sickle cell anemia cause major health problems. For thirty years, screening programs for carriers, genetic counseling and prenatal diagnosis have sought to prevent hemoglobinopathies. In 1983, the first prenatal diagnosis center was established for sickle cell anemia and beta thalassemia at Hacettepe University, Ankara. After many populationscreening studies, a law was passed in 1993 by the Turkish Parliament for the eradication of hemoglobinopathies. Forty-one premarital screening centers were set up by the Ministry of Health in the 33 provinces where most of the transfusion-dependent thalassemic patients live. The mothers at risk for hemoglobinopathies were given genetic counseling and directed to prenatal diagnosis centers. Since 1990, four prenatal diagnosis centers have been established at university hospitals in Adana, Antalya, Istanbul and Izmir. A total of 5255 prenatal diagnoses have been made for sickle cell anemia and beta thalassemia in 5 centers; 1338 fetuses have been diagnosed as homozygous or compound heterozygotes for hemoglobinopathies. Prenatal diagnosis was performed on families who had decided to terminate the pregnancy if it were to be found that the fetus was affected. Full article

We report a rare a1 globin gene variant (Hb Interlaken) found in a 63-year-old woman of Italian ancestry living in Buenos Aires Province, Argentina. The variant, a missense mutation at cd15 (GGT → GAT) causing a Gly → Asp amino acid substitution and also known as Hb J Oxford, was found in combination with the common thalassemia trait cd 39 (C → T). The clinical picture of the patient was that of a b-thalassemia trait. Full article

Comprehensive management of thalassemia demands a multidisciplinary approach, sufficient financial resources, carefully developed expertise of the care givers, as well as significant compliance on the patients’ part. Studies exploring the utility of unrestricted financing within the existing infrastructure, for the management of thalassemia, particularly in the context of a developing country, are scarce. This study aimed to assess the impact of sponsored comprehensive care compared to the routine care of thalassemics provided at Institute of Haematology and Transfusion Medicine, Kolkata, India. Two hundred and twenty patients were selected for the study and distributed in two arms. Regular monthly follow up was done including a Health Related Quality of Life (HRQoL) assessment with SF 36 v2 (validated Bengali version). Patients receiving sponsored comprehensive care showed a significant improvement in the mean hemoglobin levels and decrease in mean ferritin. HRQoL assessment revealed a better score in the physical domain though the mental health domain score was not significantly better at nine months. Unrestricted financial support in the form of comprehensive care has a positive impact on the thalassemia patients in a developing country not only in terms of clinical parameters but also in health related quality of life.
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