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

Microcytosis is a common hematological finding, usually related to iron deficiency or beta-thalassemia. When both of these conditions are excluded, alpha-thalassemia must be considered in the differential diagnosis. No simple biochemical test is able to diagnose the alpha-thalassemia trait. Using PCR amplification of the breakpoint in deletional forms, and amplification of the alpha 2 gene and restriction enzyme digestion in non-deletional forms, we identified the alpha-thalassemia carrier status in 42 out of 51 (82%) patients with microcytosis or slight microcytic anemia, unrelated to iron deficiency or beta-thalassemia. Our results underline the usefulness of molecular tests in clinical practice.
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PMID:Feasibility of molecular diagnosis of alpha-thalassemia in the evaluation of microcytosis. 940 28

The chemical identification of variant hemoglobins was largely overtaken by DNA analysis during the last decade, despite remarkable improvement and automation of individual procedures in conventional chemistry. DNA diagnosis has proved more versatile, covering both variant hemoglobin and thalassemia mutations, less labor-demanding, and easier to learn. Protein chemistry is now reserved for some special problems such as post-translational modification (this problem would be covered much better by mass spectrometry), biosynthesis and stability, and pathologic physiology of selected abnormal hemoglobins. After introduction of DNA analysis during mid 1980's, the number of blood samples referred to our laboratory rapidly increased, mainly because of thalassemia traits in the differential diagnosis of microcytic anemia. Our experience during the past forty years and the present strategy for the rapid presumptive diagnosis of hemoglobinopathies and precise identification of mutations are briefly summarized.
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PMID:[Diagnosis of hemoglobinopathies]. 962 95

This report describes the first case of homozygosity for the Hb Agrinio [alpha 29(B10)Leu-->Pro] alpha 2-globin gene variant (codon 29, CTG-->CCG) in a Greek patient. At 12 months of age, the proband presented with a marked hypochromic, microcytic anemia, a very low level of Hb H (< 2.5%), rare Hb H inclusions, and a balanced alpha/non-alpha biosynthesis ratio. The mother had hematological findings and globin biosynthesis consistent with heterozygous beta-thalassemia, but paradoxically, red cell morphology demonstrated very rare Hb H inclusions. The father had mild microcytosis and hypochromia. Analysis of alpha- and beta-globin genotypes demonstrated that the patient was homozygous for the highly unstable Hb Agrinio variant, caused by a T-->C mutation in codon 29 of the alpha 2-globin gene. At the age of 13 years, the proband had a clinical phenotype compatible with mild thalassemia intermedia with moderate anemia (Hb 7-8 g/dL), normal growth and development, slight splenomegaly, and minimal bone changes, while Hb H and inclusion bodies were not detected.
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PMID:An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant. 962 96

Red cell haemolysates of 627 patients with mainly microcytic anaemia were subjected to HPLC for diagnosis of thalassaemia (thal) or haemoglobinopathy during 1998. Thalassaemia was diagnosed in 16.3% (95 beta-thal minor, 1 beta-thal major, 2 delta beta-thal heterozygote, 4 alpha-thal1), haemoglobinopathies in 3.5% (10 Hb S including 3 Hb S-alpha-thal, 1 homozygote, 1 Hb SC and 1 Hb SE; 6 Hb E including 3 homozygotes; 3 Hb Lepore heterozygotes; 1 Hb K; 1 Hb O-Arab*; 1 Hb K-Ibadan* [* = confirmed by DNA sequencing]). In 10.7% of patients severe iron-deficiency (ferritin < 7 micrograms/l) was the cause of microcytosis (MCV 72.1 +/- 2.6 fl) and anaemia (Hb 97.2 +/- 9.8 g/l). The beta-thal minor group showed prominent microcytosis (MCV 66.9 +/- 2.6 fl) but only mild anaemia (Hb 114.1 +/- 12.9 g/l). Variant Hb K-Ibadan und Hb O-Arab were found during quantification of HbA1c. Patients with beta-thal minor or severe iron-deficiency anaemia were identified with equal frequency in adult females, children and adolescents of both sexes; however, in adult males beta-thal minor was the most frequent aetiology (> 90%) of microcytic anaemia. Our results demonstrate the diagnostic value of red cell lysate HPLC and ferritin determination when evaluating unclear microcytic anaemia. This approach, together with die HbA1c-quantification by HPLC, will render possible detailed diagnosis of thalassaemia and haemoglobinopathies.
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PMID:[Diagnosis of thalassemias and hemoglobinopathies by HPLC (high performance liquid chromatography): study of 627 patients]. 1048 59

Thalassemia is a kind of chronic, inherited, microcytic anemia characterized by defective hemoglobin synthesis and ineffective erythropoiesis. In all thalassemias clinical features that result from anemia, transfusional, and absorptive iron overload are similar but vary in severity. The radiographic features of beta-thalassemia are due in large part to marrow hyperplasia. Markedly expanded marrow space lead to various skeletal manifestations including spine, skull, facial bones, and ribs. Extramedullary hematopoiesis (ExmH), hemosiderosis, and cholelithiasis are among the non-skeletal manifestations of thalassemia. The skeletal X-ray findings show characteristics of chronic overactivity of the marrow. In this article both skeletal and non-skeletal manifestations of thalassemia are discussed with an overview of X-ray findings, including MRI and CT findings.
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PMID:Imaging features of thalassemia. 1060 54

A 55-year-old man was admitted to our hospital because of leukocytosis and microcytic anemia with hypochromia, target cells, and increased levels of hemoglobin A2 and hemoglobin F. The results of a gene analysis yielded a diagnosis of chronic myelogenous leukemia and beta-thalassemia minor. A gradual increase in hemoglobin was observed during hydroxyurea therapy, which was performed over a 12-week period. This increment appeared to be due to suppressed production of myeloid cells. It was been reported that hydroxyurea increases total hemoglobin due to increased hemoglobin F synthesis in patients with beta-thalassemia. However, hydroxyurea had no clear influence on hemoglobin concentration in this case.
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PMID:[beta-thalassemia minor diagnosed in a patient with chronic myelogenous leukemia during hydroxyurea therapy]. 1069 1

We encountered two patients who presented with hypochromic-microcytic anemia and were refractory to iron therapy. The symptoms were suggestive of anemia of chronic disease (ACD); however, there was no evidence of any such disease, either inflammatory or malignant. These patients were reminiscent of patients originally described as having primary defective iron reutilization. The hematologic picture consisted of hypochromic-microcytic anemia, low serum iron, low to normal iron binding capacity, high serum ferritin, and increased bone marrow iron in the absence of ringed sideroblasts. These patients had symptomatic anemia and received danazol (200 mg orally) three times per day to which they responded very well with an increase of approximately 3 g in the hemoglobin concentration over 1 year and amelioration of their symptoms. Danazol was well tolerated and did not cause any virilizing side effects. Doses were lowered in maintenance after 1 year to 200 mg once per week, and responses were sustained up to 36 months of follow-up duration. In the differential diagnosis of hypochromic-microcytic anemia, especially in postmenopausal women, one has to consider this type of treatable anemia when more common types such as iron deficiency, chronic inflammation, malignancy, sideroblastic anemia, or thalassemia have been ruled out.
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PMID:Treatment of primary defective iron-reutilization syndrome: revisited. 1098 70

Iron deficiency is a common cause of microcytic anaemia. However, a high prevalence of haemoglobinopathies in the Arab population makes differential diagnosis difficult. This prospective study of anaemia in children attending a regional hospital in the Sultanate of Oman looked at the prevalence and causes of anaemia in 256 children, 153 in the age group 3-5 years (group A) and 103 in the age group 10-12 years (group B). Of the children studied, 45.1% in group A and 37.9% in group B were anaemic according to WHO criteria. All the anaemic children had low mean corpuscular haemoglobin and 75% showed microcytosis. Serum ferritin levels were normal and glucose-6-phosphate dehydrogenase deficiency did not contribute to the anaemia. The microcytosis and microcytic anaemia in the study population could be attributed to the alpha-thalassaemia trait which is highly prevalent in Oman. The information is of value in any country where there is a significant prevalence of alpha-thalassaemia genes because these can confound the diagnosis of iron deficiency.
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PMID:High prevalence of microcytic anaemia in Omani children: a prospective study. 1128 46

Definitive diagnosis of concurrent hemoglobin (Hb) H disease and heterozygous beta-thalassemia cannot be made from Hb analysis alone, but necessitates genotype analysis and family study. Interactions between alpha- and beta-thalassemia must be considered when investigating moderate to severe hypochromic microcytic anemia of uncertain cause in adult patients from areas with a high prevalence of globin gene mutations.
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PMID:Diagnosis of concurrent hemoglobin H disease and heterozygous beta-thalassemia. 1132 52

Anemia in children is commonly encountered by the family physician. Multiple causes exist, but with a thorough history, a physical examination and limited laboratory evaluation a specific diagnosis can usually be established. The use of the mean corpuscular volume to classify the anemia as microcytic, normocytic or macrocytic is a standard diagnostic approach. The most common form of microcytic anemia is iron deficiency caused by reduced dietary intake. It is easily treatable with supplemental iron and early intervention may prevent later loss of cognitive function. Less common causes of microcytosis are thalassemia and lead poisoning. Normocytic anemia has many causes, making the diagnosis more difficult. The reticulocyte count will help narrow the differential diagnosis; however, additional testing may be necessary to rule out hemolysis, hemoglobinopathies, membrane defects and enzymopathies. Macrocytic anemia may be caused by a deficiency of folic acid and/or vitamin B12, hypothyroidism and liver disease. This form of anemia is uncommon in children.
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PMID:Anemia in children. 1168 80


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