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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical and hematological characteristics of 14 patients with sickle cell anemia; one heterozygous AS, and 7, with diagnostic of microcytic hypochromic anemia were analyzed. Hemoglobin phenotypes were identified by electrophoresis, fetal hemoglobin was quantificated for alkaline denaturation and the HbA2 for ionic exchange chromatography; -alpha3,7 -thalassemia was detected by mutation identification using polymerase chain reaction (PCR). SS phenotype was confirmed in 10 patients, two were SSF increased, one was SSFincreasedA2increased, and one was ASFincreased (HbF = 2%). The patient diagnosed as AS was SSFincreased (HbF = 21%). AD-patients presented a moderate clinical course of the illness. Five microcytic hypochromic anemia patients were HbAA, one was HbAAA2increased and another HbAAFincreased; those patients present a high hematological and clinical variation. beta-thalassemia was 19%. -alpha3,7-thalassemia was not detected. Infection was most frequent clinical manifestation (respiratory tract infection and intestinal parasitism). These results shows that -alpha3,7-thalassemia are not modulator genetic factors of clinical and hematological manifestations of patients with microcytic hypochromic anemia and sickle cell anemia. We suggest that environmental factors such as respiratory tract infection and intestinal parasitism may be affect the course of illness.
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PMID:[Hematological and clinical profile in sickle cell or thalassemic patients]. 1682 61

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

Microcytic hypochromic anemia is a common condition in clinical practice and alpha-thalassemia has to be considered as a differential diagnosis. Molecular diagnosis of alpha-thalassemia is possible by polymerase chain reaction. The aim of this study was to evaluate the frequency of alpha-gene numbers in subjects with microcytosis. In total, 276 subjects with microcytic hypochromic anemia [MCV<80fl; MCH<27pg] were studied. These include 125 with thalassemia trait, 48 with thalassemia major, 26 with sickle-cell thalassemia, 15 with E beta-thalassemia, 40 with iron-deficiency anemia, 8 with another hemolytic anemia, and 14 patients with no definite diagnosis. Genotyping for -alpha3.7 deletion, -alpha4.2 deletion, Hb Constant Spring, and a-triplications was done with polymerase chain reaction. The overall frequency of -alpha3.7 deletion in 276 individuals is 12.7%. The calculated allele frequency for a-thalassemia is 0.09. The subgroup analysis showed that co-inheritance of a-deletion is more frequent with the sickle-cell mutation than in other groups. We were able to diagnose 1/3 of unexplained cases of microcytosis as a-thalassemia carriers. The a-gene mutation is quite common in the Indian subcontinent. Molecular genotyping of a-thalassemia helps to diagnose unexplained microcytosis, and thus prevents unnecessary iron supplementation.
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PMID:Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India. 1713 5

Alpha thalassemia retardation associated with chromosome16 (ATR-16 syndrome) is defined as a contiguous gene syndrome resulting from haploinsufficiency of the alpha-globin gene cluster and genes involved in mental retardation (MR). To date, only few cases have been described which result from pure monosomy for a deletion of 16p. In most of these cases the deletion was identified by densitometric analysis of Southern blot results or by Fluorescent In Situ Hybridization analysis, and these alterations have not been mapped in detail. In this study, we have fine mapped deletions causing alpha-thalassemia within 2 Mb from the telomere of 16p by multiplex ligation-dependent probe amplification (MLPA). We have developed a rapid and simple test for high resolution mapping of rearrangements involving the tip of the short arm of chromosome 16 by incorporating 62 MLPA probes spaced approximately 10-200 kb over a region of 2 Mb from the telomere. One deletion of approximately 900 kb without MR was identified in addition to three de novo deletions varying between 1.5 and 2 Mb causing ATR-16 in three patients having mild MR and alpha-thalassemia. Two were found by chance to be ATR-16 because they were included in a study to search for telomeric loss in MR and not by hematological analysis. This would plead for more alertness when a persistent microcytic hypochromic anemia at normal ferritin levels is observed as suggestive for the ATR-16 syndrome. The region on chromosome 16p for which haploinsufficiency leads to the dysmorphic features and MR typical for ATR-16, has been narrowed down to a 800 kb region localized between 0.9 and 1.7 Mb from the telomere.
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PMID:Refinement of the genetic cause of ATR-16. 1759 30

This 22-year-old women presented to the ante-natal clinic of this hospital for prenatal screening for beta-thalassemia. Cation exchange high performance liquid chromatography (HPLC) using 'Beta Thalassemia Short Program' on Bio-Rad 'Variant' system revealed HbC value of 81.6%. The CBC showed microcytic hypochromic anemia. The HPLC and CBC suggested the possibility of compound heterozygote state for HbC/beta-thalassemia. The alkali and acid electrophoresis findings were consistent with the above diagnosis. The DNA analysis confirmed compound heterozygote state for HbC/beta(0)-thalassemia (Fr 8/9 mutation). The studies on the parents showed that mother was a compound heterozygote for HbD(Punjab) and HbC while father had beta-thalassemia trait. To the best of our knowledge, this is the first confirmed report of HbC from India. The paper discusses the hematological findings in this subject and her mother (a compound heterozygote for HbD(Punjab) and HbC).
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PMID:Case report of HbC/beta(0)-thalassemia from India. 1782 20

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

A 58-year-old man was admitted to our hospital because of hematemesis. Laboratory tests indicated microcytic hypochromic anemia and iron overload. We performed urgent endoscopic examination, and diagnosed bleeding from esophagogastric varices. Abdominal CT showed liver cirrhosis and marked splenomegaly, but no evidence of gastrorenal shunt. The varices were treated by Hassab's operation and splenectomy. Pathologic examination revealed hepatocytes in the cirrhotic nodules filled with iron pigment. The cause of the liver cirrhosis was considered to be due to iron overload resulting from thalassemia. We diagnosed the cause of the microcytic anemia as thalassemia by gene analysis, which revealed heterozygosity of a deletion (deltabeta thalassemia Jpn-type II) and one point mutation (-31A-->G).
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PMID:[Esophagogastric variceal bleeding in a case of liver cirrhosis associated with thalassemia]. 1949 11

Hypochromic anemia is the commonest type of anemia encountered in family practice. Although iron deficiency is by far the most common cause, it cannot be readily distinguished from hypochromic anemia due to other causes (thalassemia, secondary anemia and sideroblastic anemia) without knowing the state of the tissue iron stores. Treatment with iron should not be commenced until this is known. To establish the reason for the hypochromic state, the following tests are suggested: serum ferritin, bone marrow assessment of iron stores, plus serum iron and iron binding capacity.
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PMID:The hypochromic anemias. 2046 72

We report two novel alpha2-globin gene mutations found in the same Surinamese family. The proband, a newborn presenting during neonatal screening with 21.3% Hb Bart's (gamma4), proved to be a carrier of the common -alpha(3.7) deletion and a novel codon 32 (ATG>AGG) transversion that we named Hb Rotterdam. The father carried the same point mutation with borderline hemoglobin (Hb), MCV and low MCH values. The mother presented with a significant microcytic hypochromic anemia and also carried the -alpha(3.7) deletion and a second novel TAT>TAG transversion generating a stop codon at position 24. Shortly thereafter, Hb Rotterdam was again found in two unrelated adult females and in a Canadian newborn, all of African origin, suggesting that Hb Rotterdam could be a frequently occurring alpha(T) determinant in the Black population. Screening and characterization of the mutations, phenotype/genotype correlation and the issue of reporting newborn carriers of alpha-thalassemia (alpha-thal) are discussed.
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PMID:Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening. 2064 33

Alpha-thalassemia is an inherited hemoglobin disorder characterized by a microcytic hypochromic anemia caused by a quantitative reduction of the alpha-globin chain. The majority of the alpha-thalassemias is caused by deletions in the alpha-globin gene cluster. A deletion in the alpha-globin gene cluster, which was found in a Dutch family, was characterized by MLPA, long-range PCR and direct sequencing. We describe the molecular characterization of a novel 8.2kb deletion (--(AW)), involving both alpha-globin genes in cis. The deletion is caused by a non-homologous recombination event between an Alu and an L1-repeat sequence. This deletion is the third example of a non-homologous recombination event involving an Alu and an L1 repeat, and the first described in the human alpha-globin gene cluster. Because of a 25% risk of Hb Bart's with hydrops foetalis in the offspring when in combination with another alpha(0)-thalassemia allele, it is important to diagnose this deletion.
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PMID:A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW)). 2068 66


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