Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 26-year-old female with Beta-thalassemia/sickle cell anemia was admitted to the hospital with symptoms of a painful crisis. During the next 4 days her hematocrit decreased to 13 percent, and there was reticulocytopenia. She was transfused with four units of red blood cells that were microscopically incompatible, and the hematocrit increased to 29 percent. Eight days later the patient was readmitted with back pain, hemoglobinuria, and a hematocrit of 27 percent. Anti-E, -c, -Jka, and -Yta were identified. The direct antiglobulin test was positive, and the eluate contained anti-c and -Jka. The patient's hematocrit continued to decrease to 14 percent. Transfusions were withheld and the patient recovered uneventfully. Separate 51Cr red blood cell survival studies showed significantly shortened survival of both autologous and R(1)R(1), Jk(a-), Yt(a+) erythrocytes. This case illustrates the complexity of transfusion management in hemoglobinopathy patients.
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PMID:Case report and review: alloimmunization, delayed hemolytic transfusion reaction, and clinically significant anti-Yt(a) in a patient with Beta-thalassemia/sickle cell anemia. 1594 40

Beta-thalassemia, which is an autosomal recessive disease, is among the most common hemoglobinopathies in Antalya, Turkey. Mutations found in Turkish beta-thalassemia patients constitute a heterogeneous group, which is mostly composed of point mutations and, only in very rare cases, a deletion or an insertion causes affected or carrier phenotypes. Reverse dot blot hybridization (RDBH) method is used for screening common mutations, and sequence analysis and silver staining were performed consecutively to detect any uncommon mutation. The authors report a first Turkish family with a rare variant--intervening sequence 2 (IVS2) 849 (A-G). The proband's mother and father were determined as carriers of IVS2.849 (A-G) and IVS1.1 (G-A) mutations, respectively. Proband is the first child of the family and she has an IVS2.849 (A-G)/IVS1.1 (G-A) genotype with ss-thalassemia major phenotype. Prenatal diagnosis was performed for the second child, and genotype of the fetus was determined as IVS2.849 (A-G)/Normal. This first report of IVS2.849 (A-G) mutation in Turkish population shows that there are many more mutations contributing the heterogeneity of the mutation spectrum of beta-globin gene in the Turkish population, which indicates migrations of different ethnic origins.
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PMID:combination of IVS2.849 A-G witH IVS1.1 G-A: a mutation of beta-globin gene in a Turkish beta-thalessemia major patient. 1602 Jan 16

Mesenteric venous thrombosis is extremely rare surgical pathology during pregnancy and frequently is associated with hemoglobinopathies beta-thalassemia, congenital defects of the coagulation and antiphospholipide syndrome. It has nontypical clinical appearance, which hardens the timely diagnosis and the adequate surgical treatment. We present a case of a 22 year-old girl with hemozygote form of beta thalassemia, pregnant in ml II, with mesenteric venose thrombosis. The diagnosis was made on the 24th hour from the beginning of the disease. The patient was operated successfully by a resection of the necrotic changed part of the intestine. She noticed vaginal bleeding due to a missed abortion on the 22nd day after the operation.
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PMID:[Mesenteric venous trombosis and pregnancy--a case report and a short review of the problem]. 1602 94

Although it is life saving, transfusion therapy has resulted in the majority of sickle cell anemia and thalassemia patients being at risk for hemosiderosis-induced organ damage. It is unknown whether the complications of iron overload are affected by the underlying disease. In order to address this problem, we compared the prevalence of organ dysfunction in both groups of patients receiving chronic transfusion therapy (beta thalassemia, N = 30; sickle cell anemia, N = 43). Both groups had similar quantitative liver iron. Thalassemia patients had greater cardiac disease (20% vs. 0%), growth failure (27% vs. 9%), and endocrine failure (37% vs. 0%). The strongest predictors of combined endocrine and cardiac disease in multivariate analysis were duration of chronic transfusion (P = 0.03) and diagnosis (P = 0.03). Quantitative liver iron concentration on a single liver biopsy was not predictive of cardiac or endocrine injury. Viral hepatitis is the strongest predictor of hepatocellular damage (P = 0.009), while the development of liver fibrosis is more closely related to liver iron concentration (P = 0.04). In conclusion, sickle cell anemia and thalassemia differ in the prevalence of organ injury. This difference is related to the duration of iron exposure and the specific hemoglobinopathy. A prospective study with a larger number of subjects is needed to confirm the relationships between specific diagnosis, liver iron concentration over time, and organ dysfunction.
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PMID:Comparison of organ dysfunction in transfused patients with SCD or beta thalassemia. 1613 45

Patients with sickle cell anemia (SCA) may develop a glomerulopathy with proteinuria and progressive renal insufficiency, leading to ESRD. Albuminuria is a sensitive marker of glomerular damage in this population and precedes the development of renal insufficiency. For determination of the prevalence of glomerular damage in SCA and the clinical correlates of renal insufficiency, 300 adult patients with SCA were studied (hemoglobin SS = 184; and 116 with other sickling hemoglobinopathies: SC, SD, and S-beta thalassemia); albumin excretion rates (AER) and renal function (Cockroft-Gault formula) were determined, and clinical and hematologic evaluations were conducted. In hemoglobin SS disease, increased AER (micro- and macroalbuminuria) occurred in 68% of adult patients, and macroalbuminuria occurred in 26%. In other sickling disorders, increased AER occurs in 32% of adults, and macroalbuminuria occurs in 10%. The development of graded albuminuria was age dependent, so at 40 yr, 40% of patients with SS disease had macroalbuminuria. There were no differences in hematologic parameters (hemoglobin levels, white blood cell count, percentage of reticulocytes, platelet counts, or lactate dehydrogenase levels) between patients with normoalbuminuria and those with micro- or macroalbuminuria. By multivariate analysis, albuminuria correlated with age and serum creatinine in SS disease but not with BP or hemoglobin levels. In other sickling disorders, albuminuria tended to be associated with age but not with hemoglobin or BP levels. The diastolic BP was lower in patients with SCA than in African American control subjects, and the development of renal insufficiency, which was present in 21% of adults with SS disease, was not accompanied by significant hypertension. It is concluded that glomerular damage in adults with SCA is very common, and a majority of patients with SS disease are at risk for the development of progressive renal failure. The development of micro- and macroalbuminuria is not related to the degree of anemia, suggesting that sickle cell glomerulopathy is not solely related to hemodynamic adaptations to chronic anemia. In contrast to other glomerulopathies, the development of systemic hypertension is uncommon in SS disease with renal insufficiency.
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PMID:Glomerular involvement in adults with sickle cell hemoglobinopathies: Prevalence and clinical correlates of progressive renal failure. 1683 35

Molecular identification of affected alleles in the index family with rare mutation(s) and/or interaction(s) is an important prerequisite toward a proper genetic counseling. In Thailand, where more than 30% of the populations are heterozygotes for either alpha or beta thalassemia mutation(s). More than 60 different thalassemia syndromes resulting from the interactions of these heterogeneous alleles have been observed. The majority of patients in the hospital based-study are compound heterozygotes for beta thalassemia alleles and another hemoglobinopathy namely Hb E, highly prevalent in Thailand, gave rise to Hb E/beta thalassemia syndrome. The phenotypes of these syndromes vary from asymptomatic individual to a very severe phenotype mimic that of beta thalassemia major. In this report, we describe a three-year-old Thai girl presenting with mild hypochromic microcytic anemia since birth. She was born prematurely and developed anemia within the first week of life. The cause of anemia was suspected to result from prematurity and low intrauterine iron storage, however hypochromic anemia did not resolve after a three-month of iron supplement therapy. Subsequent studies indicated that the patient had Hb E/beta thalassemia disease and the molecular study revealed that the patient was a compound heterozygote for Hb E and a rare beta thalassemia mutation (beta(-31), A --> G). This hitherto genotype results in a relatively mild clinical symptom since the patient's baseline Hb values were around 9-10 g/dL with normal weight and height development during the follow-up period.
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PMID:Clinical phenotypes and molecular diagnosis in a hitherto interaction of Hb E/beta thalassemia syndrome (beta(E)/beta(-31), (A -->G)). 1685 29

The aim of this study was to screen and identify the types of thalassemia among blood donors at the Hospital Universiti Sains Malaysia (HUSM). Thalassemia screening was performed by hemoglobin electrophoresis. A total number of 80 blood samples were obtained from donors at the Transfusion Medicine Unit, HUSM. The ethnic origins of the donors were Malays (n=73, 91.3%) and non-Malays (n=7, 8.75%). Males comprised 88.1% of the donors. Thalassemia was detected in 16.25% (n=13) of the blood donors. Of those with thalassemia, 46.2% (6/13) were anemic. Microcytosis and hypochromia were detected in 84.6% (n=l1) and 84.6% (n=l1) of these donors, respectively. The types of thalassemias detected were Hb E, 11.25% (n=9/80) and beta thalassemia trait, 5% (n=4/80). Among the thalassemias detected, the Hb E hemoglobinopathy was comprised of Hb E/ alpha-thalassemia (38.5%: n=5), Hb E /beta-thalassemia (23.1%: n=3), Hb E trait (7.6%: n=1) and beta-thalassemia (30.8%: n=4). In conclusion, screening for thalassemia trait should be included as part of a standard blood testing before blood donation. Further studies are required to look at the effects of donated thalassemic blood.
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PMID:Thalassemia among blood donors at the Hospital Universiti Sains Malaysia. 1712 Sep 78

beta-Thalassemia (thal) and sickle cell disease are the most common genetic diseases worldwide. Although supportive therapies such as regular transfusion and chelation for beta-thal and hydroxyurea (HU) for sickle cell disease have significantly improved clinical manifestations and the quality of life, they cannot eliminate disease and therapy-related complications. Today, hematopoietic stem cell transplantation (HSCT) is the only curative treatment for patients with hemoglobinopathies. The first successful HSCT was reported in 1981. At that time, more than 1,000 patients underwent HSCT in Pesaro, Italy. Sixty beta-thal patients underwent HSCT at the Department of Pediatric Hematology-Oncology, Akdeniz University School of Medicine, Antalya, Turkey between 1998 and 2006. We found stable mixed chimerism in 14 patients out of 45 (31%) in our transplanted thalassemia patients. The thalassemia free survival and overall survival rates were found to be 84.0 and 91.0%, respectively. The literature and our results indicate that HSCT can offer a cure for hemoglobinopathy patients.
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PMID:Stem cell transplantation in hemoglobinopathies. 1748 8

Individual variation in fetal hemoglobin (HbF, alpha(2)gamma(2)) response underlies the remarkable diversity in phenotypic severity of sickle cell disease and beta thalassemia. HbF levels and HbF-associated quantitative traits (e.g., F cell levels) are highly heritable. We have previously mapped a major quantitative trait locus (QTL) controlling F cell levels in an extended Asian-Indian kindred with beta thalassemia to a 1.5-Mb interval on chromosome 6q23, but the causative gene(s) are not known. The QTL encompasses several genes including HBS1L, a member of the GTP-binding protein family that is expressed in erythroid progenitor cells. In this high-resolution association study, we have identified multiple genetic variants within and 5' to HBS1L at 6q23 that are strongly associated with F cell levels in families of Northern European ancestry (P = 10(-75)). The region accounts for 17.6% of the F cell variance in northern Europeans. Although mRNA levels of HBS1L and MYB in erythroid precursors grown in vitro are positively correlated, only HBS1L expression correlates with high F cell alleles. The results support a key role for the HBS1L-related genetic variants in HbF control and illustrate the biological complexity of the mechanism of 6q QTL as a modifier of fetal hemoglobin levels in the beta hemoglobinopathies.
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PMID:Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. 1759 25

Beta-thalassemia is the most common disease among hemoglobinopathies in Antalya, Turkey, as well as world-wide. Mutations found in Turkish beta-thalassemia patients constitute a heterogeneous group, consisting mostly of point mutations. Only in very rare cases did deletions or insertions cause affected or carrier phenotypes. Hb Knossos [beta 27 (B9) Ala-Ser] is a rare variant with a normal HbA2 level. In this study, we aimed to investigate the effect of compound heterozygosity for Hb Knossos [Cod 27 (G-T)] and IVSII-745 (C-G). To our knowledge, this is the first report of such a combination related with beta-thalassemia major phenotype in a Turkish family, where reverse dot blot hybridization (RDBH) and DNA sequencing analysis were used. Heterozygous inheritance of the mutation results in mild beta-thalassemia phenotype, whereas homozygous inheritance leads to intermediate beta-thalassemia. As a result, the compound heterozygosity of Hb Knossos with IVSII-745 appears as the cause of the beta-thalassemia major phenotype in our case. The combination of these mutations [Hb Knossos, Cod 27 (G-T), and IVSII-745, C-G] causes the beta-thalassemia major phenotype, and this is important for genetic counseling.
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PMID:Combination of Hb Knossos [Cod 27 (G-T)] and IVSII-745 (C-G) in a Turkish patient with beta-thalassemia major. 1794 82


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