Thalasemia

BACKGROUND: Congenital diseases are still an important medical, social, and economic problem all over the world. In North Cyprus, in addition to other reasons, early prenatal diagnostic measures are undertaken to prevent births with thalassemia major, a locally widespread genetic disease. AIM: This study aims to evaluate the results of prenatal invasive diagnostic tests performed in a private obstetrics clinic in Northern Cyprus and show the diagnosis process of thalassemia and chromosomal anomalies...

Here, we describe a case report of a Sardinian woman diagnosed as pure beta-thalassemia carrier for her anemia who underwent to alpha-thalassemia genetic testing that revealed she was heterozygous for both thalssemias. This allowed to reach a conclusive diagnosis useful for family counseling and for assess the reproductive risk.

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Introduction : Beta-thalassemia is one of the most prevalent inherited blood diseases among Iranians. The aim of this study was to elucidate the chromosomal background of beta-thalassemia mutations in Esfahan province, Iran. Materials and Methods: In this study, we investigated three frequent mutations (c.315+1G>A, c.93-21G>A and c.92+5G>C in β-globin gene, the frequency of RFLP haplotypes, and LD between markers at β -globin gene cluster) in 150 beta-thalassemia patients and 50 healthy individuals...

Low-grade neuroepithelial tumors (LGNT) show a broad histopathological spectrum and may be difficult to classify using current World Health Organization (WHO) criteria. A 57-year-old man came to medical attention because of headaches. The patient medical history was otherwise unremarkable. Magnetic resonance imaging (MRI) revealed a 2.5 cm lesion, partially cystic, with an increased signal on T2-weighted imaging, located in the right frontal lobe. The patient underwent right frontal craniotomy and the surgical specimen was entirely evaluated...

BACKGROUND: β-thalasemia major (β-TM) patients often suffer from various vascular complications together with increased oxidative stress. Hyperhomocysteinemia (Hhcy) has been defined as a risk factor for these complications. Genetic polymorphism of methylenetetrahydrofolate reductase (MTHFR) C677T has been shown to cause Hhcy particularly in individuals with low B-vitamins. However, the status of homocysteine (hcy) in β-TM has not yet been adequately defined. AIM: To evaluate the genetic polymorphism of MTHFR C677T among β-TM patients and its prospective contribution to Hhcy and related oxidative changes...

Diamond-Blackfan Anemia (DBA) is a bone marrow failure disorder characterized by low red blood cell count. Mutations in ribosomal protein genes have been identified in approximately half of all DBA cases. Corticosteriod therapy and bone marrow transplantation are common treatment options for patients; however, significant risks and complications are associated with these treatment options. Therefore, novel therapeutic approaches are needed for treating DBA. Sotatercept (ACE-011, and its murine ortholog RAP-011) acts as an activin receptor type IIA ligand trap, increasing hemoglobin and hematocrit in pharmacologic models, in healthy volunteers, and in patients with β-thalassemia, by expanding late-stage erythroblasts through a mechanism distinct from erythropoietin...

Among the many associated features of persistent pulmonary hypertension of the neonate (PPHN), severe congenital anemia has been described only occasionally and is not included in the list of conditions that may cause PPHN in the neonate. We describe the clinical course of a group of 12 full-term neonates with PPHN and congenital anemia due to congenital dyserythropoietic anemia (7/12), α thalasemia (1/12), Diamond-Blackfan (1/12), and epsilon gamma delta beta thalassemia (3/12). The association of congenital anemia and PPHN is more common than previously thought; it can exist with various etiologies and severity of anemia...

Present study was aimed to explore the effect of (TA)n UGT1A1 gene promoter polymorphism on bilirubin metabolism, bilirubinaemia, predisposition to cholelithiasis and subsequent cholecystectomy, in Sickle-Cell Anemia (SCA) and beta-Thalasemia major (bTH) in Kuwaiti subjects compared to other population. This polymorphism was analyzed and correlated to total bilirubin and cholelithiasis in 270 age, gender, ethnically matched subjects (92 bTH, 116 SCA and 62 Controls) using PCR, dHPLC, fragment analysis and direct sequencing...

BACKGROUND: β -Thalassaemia, an autosomal recessive hemoglobinopathy, is one of the commonest genetically transmitted disorders throughout the world. Collective measures including carrier identification, genetic counseling and prenatal diagnosis are required for preventing β-thalassemia. AIM: To achieve this objective, Identification of the spectrum of genetic mutations, especially for various ethnic backgrounds in Pakistan. Therefore, we designed a cross sectional prospective study to identify the frequency of various gene mutations in different ethnic groups of Pakistan...

BACKGROUND: Noninvasive prenatal diagnosis based on detection of fetal cell-free DNA is hampered when mother and father are both carriers for the same autosomal recessive mutation. OBJECTIVE: To compare the diagnosis of Bart's hydrops fetalis using conventional Gap-PCR analysis of fetal cells/tissues with the measurement of quantitative difference (deltaCp) between alpha-thalassemia-1 SEA type deletion gene (C(T-mutant)) and wild type alpha-globin gene (C(T-wild type)) in plasma of pregnancies by using the Taqman real-time quantitative PCR...

Need for iron increases rapidly during adolescence. In girls, this is primarily due to the beginning of menstruation and dieting to loose weight, while in boys increased erythropoetic activity during pubertal period is the major cause. Between November 1999 and June 2000, 2,900 patients, between 9-17 years of age were screened for the presence of anemia in our Adolescent Outpatient Clinic. Tanner's scale of sexual maturation was used to categorize genital development. Those patients diagnosed with anemia were further examined for bone age, history of pica, parasitosis and gastrointestinal symptoms...

In a boarding school of Maharashtra State of India 314 students (Bhil & Pawar) were examined clinically and blood was examined. Anemia was present in 16.2% male & 38.3% female. B (Beta). Thalasemia trait was present in 1.6% male & 2.4% female. Sickle cell trait was present in 21.3% male and 14.4% female and sickle cell disease in 0.6% student. G6PD deficiency was seen in 5.1% male & 4.8% female students.

immunosorbent To determine serum EPO and soluble transferrin receptor (sTfR) level and to assess the degree of erythropoietic proliferation in patients with thalassemia of Li nationality, 50 cases and 50 normal individuals were studied. Enzyme-linked immunosorbent assay was used for EPO and sTfR. Results showed that serum EPO and sTfR levels in beta-thalasemia major patients were significantly higher than those in normal control group, and no significant difference in beta-thalassemia minor cases with those in control...

George Hoyot Whipple (1878-1976) was awarded the Nobel Prize in Physiology and Medicine in 1934, along with Minot and Murphy for their studies in pernicious anemia. Whipple's name has been given to the bacterial disease which he describes in 1907 that we know today as Whipple's disease or intestinal lipodystrophy. He gave the name of thalasemia to the Mediterranean anemia of Cooley, and made diverse contributions to hematology and general pathology. He worked with William Welch in the Department of Pathology at Johns Hopkins Hospital and later became director of the University of Rochester...

Fifty three patients (pts) received an allogeneic hematopoietic transplant using peripheral blood progenitor cells (PBPC). Diagnosis were acute myeloid leukemia (AML) in 16 pts, acute lymphoblastic leukemia (ALL) in 15, chronic myeloid leukemia (CML) in first chronic phase in 12, aplastic anemia in 4, myelodysplasia in 3 and Hodgkin's disease, major thalasemia and Hunter's syndrome in one each. Mean age was 20 years-old (2-55), 28 males and 25 females. Conditioning regimens were total body irradiation with 1200 cGy and cyclophosphamide 120 mg/kg in 38 pts, busulfan 16 mg/kg and cyclophosphamide 120 mg/kg in 10 pts, total lymphoid irradiation and cyclophosphamide in 3, 2 pts received other chemotherapy based conditionings...

Hydroxyurea is a common cancer chemotherapy agent that inhibits ribonucleotide reductase, an enzyme essential to DNA synthesis. It is considered the drug of choice in the treatment of chronic myelogenous leukemia and essential thrombocythemia. The occurrence of leg ulcers have been described in 8.5% of patients receiving continuous treatment with hydroxyurea, but the cause of this complication is unknown. We report two additional patients and suggest that macroerythrocytosis, which occurs in almost all the patients taking hydroxyurea, may be a pathogenic factor...

We have analyzed the factors associated with engraftment in 216 recipients of T-cell depleted allogeneic HLA identical sibling marrow transplants using Campath 1 monoclonal antihuman lymphocyte (CD52) antibodies. The patient population consisted of 168 patients with hematologic malignancies, 26 with severe aplastic anemia (SAA), and 22 with hemoglobinopathies, half of whom received marrow treated in vitro with Campath-1M (IgM) and half received marrow with Campath-1G (IgG2b isotype). Patients with durable engraftment had fast hematopoietic recovery: SAA patients reached ANC > 0...

Thalassemia intermedia is a clinical entity characterized by moderate, non-transfusional anemia and hepatosplenomegaly. This phenotype can result from different genetic combinations and is sometimes present in patients with only one parent showing the thalasemia minor phenotype. We report here a family with seven members with the thalassemia beta trait, four of them with thalasemia minor and the other three with thalassemia intermedia. The genetic study of patients with thalassemia intermedia revealed the presence of the mutation IVS-1 1(G-->A) in the beta-globin gene and the heterozygous triplication of the alpha-globin gene, an uncommon association in Spain...

Findings on health screening of immigrant Southeast Asian adolescents enrolled at a Federally funded vocational training facility were reviewed for the years 1979-1982. History of or positive skin test for tuberculosis was found in 55%. A heavy parasite burden was found in 46% of the recent Laotian immigrants, but was infrequent in Vietnamese who had been in the United States for several months before testing. Anemia was found in only 5.5%, though an additional 6.5% had findings suggestive of Thalasemia trait...