Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The presence of extra copies of alpha-globin gene has been shown to worsen the degree of anemia in beta-thalassemia heterozygotes. We describe the clinical phenotype of eight Chinese subjects with heterozygosity for both triplicated alpha-globin gene and a beta0-thalassemia allele. They were identified through genotyping of beta-thalassemia intermedia and major patients, and through community-based thalassemia screening program in Hong Kong. Standard molecular techniques were used in the determination of genotype. All subjects in this series showed five copies of alpha-globin genes (alphaalphaalpha/alphaalpha) in association with a beta0-thalassemia allele. Although genotypically identical, six subjects showed a beta-thalassemia intermedia phenotype while two were clinically indistinguishable from beta-thalassemia minor, implying the presence of genetic modifying factors that remained undefined. Triplication of alpha-globin gene and heterozygosity for beta0-thalassemia accounted for 15% of beta-thalassemia intermedia patients at our locality and was associated with a mild clinical phenotype. This genotype was not found among beta-thalassemia major patients. They presented in adulthood and were usually not transfusion dependent. When compared with simple beta-thalassemia heterozygotes, they showed obvious red cell abnormalities (hypochromasia, anisopoikilocytosis, circulating normoblasts), lower hemoglobin (Hb) and higher HbF levels. The presence of triplicated alpha-globin genes should always be considered in apparent beta-thalassemia carriers who were more symptomatic than expected, so that unnecessary investigations for the cause of anemia could be avoided. Finally, triplication of alpha-globin genes should be looked for in families with children affected by beta-thalassemia intermedia in which only one parent showed a picture of beta-thalassemia on Hb analysis.
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PMID:Clinical phenotype of triplicated alpha-globin genes and heterozygosity for beta0-thalassemia in Chinese subjects. 1144 69

Beta-thalassemia minor is a hemoglobinopathy which has been known as a symptomless carrier state. Although there are many causes leading to renal tubular dysfunction, beta-thalassemia minor has not been reported among them in reviewing the literature. In a 20-year-old male patient referred to us because of glucosuria detected with dipstick, there was also anemia (hemoglobin, 11.5 g/dl; mean cell volume, 60 fl; and mean cell hemoglobin concentration, 19.5 pg). The 24-hour urinary glucose excretion rate was 5 g and, additionally, he had tubular proteinuria (albumin/beta(2)-microglobulin ratio in urine was 17.32). Based upon the detailed evaluation for both asymptomatic urinary abnormality and anemia, he was diagnosed as having renal tubular dysfunction and beta-thalassemia minor (hemoglobin A(1)was 91%, and hemoglobin A(2)was 9%). In conclusion, further reports are needed to reveal whether there is an association between these two distinct disorders.
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PMID:Renal tubular dysfunction in a patient with beta-thalassemia minor. 1218 8

Iran is a country with high prevalence of about 5-10% of beta-thalassemia trait. The prevalence of Cooly's anemia has declined from 11.6 in 10000 population to 7.2 in 10000 in a five-year period due to screening program of beta-thalassemia trait before marriage. This study was conducted to compare the sensitivity of mean corpuscular hemoglobin (MCH) < 27 pg and mean corpuscular volume (MCV) < 80 fl as a screening test in first step of screening of beta-thalassemia trait. From 2449 couples (4898 cases) participating in the premarital screening to our clinic, 902 cases with either MCH < 27 pg, MCV < 80 fl, anemia, pallor or family history of beta-thalassemia were enrolled in the study. MCV, MCH as well as Hb A2 were measured in all cases. MCH and MCV had sensitivities of 98.5% and 97.6% for the diagnosis of beta-thalassemia trait, respectively. A false negative value of MCH is about 1% lower than that of MCV. MCH is a more sensitive screening test for detecting beta-thalassemia minor before marriage.
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PMID:Efficiency of premarital screening of beta-thalassemia trait using MCH rather than MCV in the population of Fars Province, Iran. 1241 32

This is a case of hypochromic, microcytic red cells in a young adult Caucasian female. It illustrates the importance of performing iron studies to confirm suspected iron deficiency anemia (IDA). Thalassemia minor is often misdiagnosed as IDA and iron therapy may be needlessly administered. Moreover, the patient will be unaware of an inherited hematological disorder which may require genetic counseling. alpha-thalassemia patients with the --/alphaalpha (cis) genotype should be advised of the risk for producing offspring with Hemoglobin H disease (genotype --/alpha-). In this case, DNA analysis confirmed the diagnosis of a trans type gene deletion alpha-thalassemia trait. Ancestry on the maternal side is German and French. On the paternal side the ancestry is Dutch and Scandinavian. Additionally, there was no knowledge of any family history of anemia on either the maternal or paternal side of the family. This case reaffirms that Anglo-Saxon ancestry does not preclude the diagnosis of alpha-thalassemia. It also supports the findings of Wang that when laboratory findings are suggestive of alpha-thalassemia minor, a moderately decreased MCV, slightly elevated red cell count, and the absence of hemoglobin H inclusions is probably indicative of trans rather than cis type gene deletion alpha-thalassemia trait.
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PMID:Trans type genotype alpha thalassemia trait: a case study. 1275 85

Beta-thalassemia, which results from a reduced production of beta-globin chain of hemoglobin, is a common single gene disorder with an extremely heterogeneous clinical picture. Its presentation may vary from mild anemia in beta-thalassemia minor to severe and life-threatening anemia in beta-thalassemia major. Recent advances in supportive treatment of beta-thalassemia major have resulted in substantial increase in survival in these patients, and an increasing number of these patients reach adolescence and adulthood. The incidence of cholelithiasis is reported to be increased in these patients. Although laparoscopic cholecystectomy (LC) has become the gold standard treatment of symptomatic gallstone disease, its experience in adult beta-thalassemic patients has been limited. From May 1992 through April 2000, 10 consecutive adult beta-thalassemic patients with symptomatic gallstone underwent LC at our institution. Data were obtained on the type of beta-thalassemia, presentation, preoperative laboratory findings, history of preoperative transfusion, postoperative complications, postoperative analgesic requirement, length of hospital stay, and follow-up. All operations were completed laparoscopically. The mean operative time was 98.5 minutes. The postoperative analgesic requirement was minimal. There was no mortality. One patient developed fever postoperatively due to lung atelectasis that was managed conservatively. The mean hospital stay was 3 days. Laparoscopic cholecystectomy is feasible, safe, and effective in the treatment of adult beta-thalassemic patients with symptomatic gallstone disease. Technical adjustments are required when operating on patients with beta-thalassemia major.
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PMID:Techniques and clinical outcomes of laparoscopic cholecystectomy in adult patients with beta-thalassemias. 1281

The transcription factor GATA-1, together with its cofactor FOG-1, regulates erythropoiesis and megakaryocytopoiesis. Mutations in the DNA or FOG-1 binding sites of its N-terminal zinc finger result in different illnesses. Alterations of the FOG-1 face are responsible for dyserythropoietic anemia with thrombocytopenia while R216Q, the only mutation identified in the DNA face, induces X-linked thrombocytopenia with thalassemia (XLTT). The former disorder has been studied in detail whereas little is known about the latter since only one family has been investigated. We studied a second family with an R216Q, showing that XLTT and dyserythropoietic anemia with thrombocytopenia, even if different clinical entities, are closely related disorders. In both cases, patients present mild dyserythropoiesis, red cell hemolysis, severely defective maturation of megakaryocytes, macrothrombocytopenia with alpha-granule deficiency, and abnormalities of the cytoplasmic membrane system. However, a thalassemia minor phenotype has only been described in patients with XLTT whereas severe anemia and thrombocytopenia with evident defects of platelet composition and function may be observed only in dyserythropoietic anemia with thrombocytopenia.
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PMID:Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis. 1469 78

Hemoglobin (Hb) electrophoresis is widely used in thalassemia screening. Most Hb variants express a specific abnormal band on the cellulose acetate membrane. The technique is useful in the diagnosis of the type of thalassemia but is not sensitive enough to detect alpha-thalassemia minor because the quantity of the HbH is too small to be expressed on the supporting medium. We used simple staining of blood smears rather than the sophisticated molecular method to detect HbH inclusions. To evaluate the effectiveness of this method, we used brilliant cresyl blue (BCB) staining of red blood cells in 509 patients with microcytosis and erythrocytosis caused by various conditions. The results indicate that BCB staining is useful in the identification of subjects who possess alpha-thalassemia traits. Coexisting conditions such as beta-thalassemia and iron-deficiency anemia did not affect the detection of the HbH inclusions with the use of BCB staining. We conclude that BCB staining is helpful and reliable as an auxiliary method of detecting HbH inclusions in the diagnosis of alpha-thalassemia traits, especially in places where medical resources are limited.
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PMID:Usefulness of brilliant cresyl blue staining as an auxiliary method of screening for alpha-thalassemia. 1574 52

This study assessed whether glycosylated hemoglobin could be used as an index to distinguish between iron-deficiency anemia and thalassemia minor. Glycosylated hemoglobin was measured by high-pressure liquid chromatography in 40 ss -thalassemia minor patients, 20 iron-deficiency anemia patients, and 38 healthy controls, all nondiabetic. Median glycosylated hemoglobin was lower in ss -thalassemia minor than in the iron-deficiency and control groups (p = .000). There was no difference between iron-deficiency patients and healthy controls (p = .095). Glycosylated hemoglobin was not different in iron-replete and iron-deficient traits (p > .05). A cutoff value of 5% has provided a sensitivity of 95% and specificity of 75.7% for distinguishing between these two entities. Positive and negative predictive value were 96.6 and 67.9%. These values were superior to the traditional discriminants' values calculated on the same individuals. Glycosylated hemoglobin could be useful in discriminating between iron-deficiency anemia and thalassemia minor. Further studies are needed, but the point that it can also be used when both conditions exist simultaneously seems to be clinically important.
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PMID:The usefulness of glycosylated hemoglobin (HbA1C) in discriminating between iron deficiency and thalassemia. 1662 72

We evaluated and treated four white adults (one man, three women) who had iron overload associated with daily ingestion of iron supplements for 7, 15, 35, and 61 years, respectively. We performed HFE mutation analysis to detect C282Y, H63D, and S65C in each patient; in two patients, HFE exons were sequenced. In two patients, direct sequencing was performed to detect coding region mutations of TFR2, HAMP, FPN1, HJV, and ALAS2. Patients 1-4 ingested 153, 547, 1,341, and 4,898 g of inorganic iron as supplements. Patient 1 had hemochromatosis, HFE C282Y homozygosity, and beta-thalassemia minor. Patient 2 had spherocytosis and no HFE coding region mutations. Patient 3 had no anemia, a normal HFE genotype, and no coding region mutations in HAMP, FPN1, HJV, or ALAS2; she was heterozygous for the TFR2 coding region mutation V583I (nt 1,747 G-->A, exon 15). Patient 4 had no anemia and no coding region mutations in HFE, TFR2, HAMP, FPN1, HJV, or ALAS2. Iron removed by phlebotomy was 32.4, 10.4, 15.2, and 4.0 g, respectively. There was a positive correlation of log(10) serum ferritin and the quantity of iron removed by phlebotomy (P = 0.0371). Estimated absorption of iron from supplements in patients 1-4 was 20.9%, 1.9%, 1.1%, and 0.08%. We conclude that the clinical phenotypes and hemochromatosis genotypes of adults who develop iron overload after ingesting iron supplements over long periods are heterogeneous. Therapeutic phlebotomy is feasible and effective, and would prevent complications of iron overload.
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PMID:Iron overload and prolonged ingestion of iron supplements: clinical features and mutation analysis of hemochromatosis-associated genes in four cases. 1683 33

Thalassemia is a hereditary anemia resulting from defect in hemoglobin production. Beta thalassemia is due to impaired production of beta globin chains, leading to a relative excess of alpha globin chains. The term beta thalassemia minor is used to describe heterozygotes, who carry one normal beta globin allele and one beta thalassemic allele. The vast majority of these patients are asymptomatic. However, a variety of renal tubular abnormalities including hypercalciuria, hypo-magnesemia with renal magnesium wasting, decreased tubular absorption of phosphorus, hypo-uricemia with renal uric acid wasting, renal glycosuria and tubular proteinuria have been described even in patients with beta thalassemia minor. We here in report a 24-year old female patient who was found to have thalassemia minor and nephrocalcinosis with evidence of renal tubular dysfunction. Investigations revealed normal renal function, hypercalciuria, reduced tubular reabsorption of phosphorus, hypomagnesemia and renal magnesium wasting. Screening for aminoaciduria was found to be negative. An acid loading test revealed normal urinary acidification. Ultrasonogram of the abdomen revealed nephrocalcinosis and splenomegaly. Detailed work up for anemia showed normal white cell and platelet count while peripheral smear showed microcytic hypochromic anemia with few target cells. Hemoglobin electrophoresis revealed hemoglobin A of 92%, hemoglobin A2 of 6.2% and hemo-globin F of 1.8% consistent with beta thalassemia minor. Her parental screening was normal. A diagnosis of beta thalassemia minor with renal tubular dysfunction was made and the patient was started on thiazide diuretics to reduce hypercalciuria and advised regular follow-up.
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PMID:Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor. 1897 85


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