Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Using a method involving elution of hemoglobin bands from cellulose acetate strips following electrophoresis of hemolysates, hemoglobin A2 (Ab A2) was quantitated in bloods from 300 healthy individuals and 904 patients. The percentage of Hb A2 was elevated in beta-thalassemia heterozygotes and some patients who had megaloblastic anemia. In the latter, the highest Hb A2 levels were observed in patients with the most severe anemia. Low Hb A2 percentages were found in iron-deficiency anemia, hereditary persistance of fetal hemoglobin, and Hb H disease. In iron-deficiency anemia, the lowest levels of Hb A2 were observed in association with the most severe anemia. Iron and folate deficiency each suppressed Hb A2 levels in beta-thalassemia heterozygotes; however, vitamin B12 deficiency did not alter the percentage of Hb A2 in thalassemia. Malignant tumors, renal and hepatic insufficiency, chronic infections and inflammation, hemolytic disease, lead poisoning, aplastic anemia, leukemia, myelofibrosis, and hypothyroidism did not change Hb A2 levels. The pathogenesis of altered Hb A2 levels and their clinical significance in various diseases are discussed.
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PMID:Hemoglobin A2 levels in health and various hematologic disorders. 26 35

A total of 4939 apparently healthy Fijian and Indian subjects living in Fiji were tested for anaemia by determination of the microhaematocrit of a sample of capillary blood. The prevalence of anaemia during childhood varied with age but was similar for Fijians and Indians of either sex. The overall prevalences were: 0-4 years, 20.3%; 5-9 years, 3.7%; 10-14 years, 23.5%. The prevalence of anaemia among Indian women (33.3%) was substantially higher than that for Indian men (6.9%), Fijian women (8.1%) or Fijian men (6.8%). Iron deficiency was the most common cause of anaemia and was established by laboratory studies in 203 (68%) of 298 anaemic subjects who were followed up. Iron deficiency was an important aetiological factor in 91 (93%) of 98 subjects with moderate or severe anaemia. Folate deficiency was found, usually in combination with iron deficiency, in 44 or 141 anaemic indian adults were followed up. Folate deficiency was uncommon in Fijian adults and among children of either race. Two cases of nutritional vitamin B12 deficiency, one case of pernicious anaemia, 6 cases of heterozygous thalassaemia and one case of heterozygous haemoglobin E were found among the anaemic Indian subjects. No cases of vitamin B12 deficiency anaemia, thalassaemia or haemoglobinopathy were detected among the Fijians. In 5 Indians and 7 Fijians the anaemia was associated with an underlying chronic disorder. This study emphasizes that in Fiji, as in other developing countries, nutritional anaemia is prevalent among asymptomatic subjects. Iron deficiency is by far the most common cause.
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PMID:The prevalence and nature of anemia among apparently normal subjects in Fiji. 52 78

Haemoglobin A2 levels were measured in 50 patients with vitamin B12 deficiency, 50 patients with folate deficiency, and six patients with combined deficiencies of these vitamins. All were normal except for three patients with vitamin B12 deficiency, who had a slightly elevated Hb A2 level; this fell to normal after vitamin B12 therapy. It is concluded that haemoglobin A2 levels are usually normal in vitamin B12 or folate deficiency. However, raised levels of haemoglobin A2 may be found, but these are not as high as is found in beta thalassaemia trait and should not cause difficutly in diagnosis.
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PMID:Haemoglobin A2 levels in vitamin B12 and folate deficiency. 71 5

The haematological variables, haematinic state, and placental function of more than 2000 pregnant women, heterozygous for either alpha- or beta-thalassaemia genes, were examined during pregnancy. Four features emerged. Firstly, it was possible by discriminant function analysis of haematological variables to distinguish in pregnant patients between the anaemia caused by thalassaemia trait and that caused by iron deficiency. Secondly, patients with thalassaemia become significantly more anaemic in pregnancy, beta more than alpha, but this was mainly due to plasma dilution. From the data percentile curves were drawn for each type of thalassaemia which predicted the patients' expected "normal" haemoglobin throughout gestation. Thirdly, patients with alpha-thalassaemia had the same incidence of iron deficiency as normal pregnant patients, whereas in those with beta-thalassaemia it was four times less common. The incidence of folic acid and vitamin B12 deficiency was the same in all groups. Finally, as assessed by serum oestriol concentration, there did not appear to be any abnormality of placental function or fetal development associated with maternal thalassaemia, and, also, there seemed to be no increase in maternal or fetal morbidity in pregnancy.
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PMID:Thalassaemia trait and pregnancy. 401 2

Among 990 young male adolescents studied, only 7 were anemic. Three of the anemics had beta-thalassemia trait and 4 had probable alpha-thalassemia trait. Forty-six individuals with hemoglobinopathies were detected: 29 with probable alpha-thalassemia trait, 10 with beta-thalassemia trait and 7 with heterozygous HbE. Heterozygous alpha and beta-thalassemia occurred predominantly in Chinese while heterozygous HbE was found entirely in Malays. There were no cases of established iron deficiency anemia and only 1 had iron deficient erythropoiesis. Folate deficiency occurred only in 8 subjects with thalassemia traits, and no vitamin B12 deficiency was detected.
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PMID:Anemia in male adolescents in Singapore. 620 55

The present investigation was undertaken to search for soluble forms of the erythropoietin receptor in human serum using polyclonal antibody against an amino terminal peptide sequence in the extracellular domain. This sequence was located adjacent to the amino terminus at residues 25-38. When this antibody was used for Western blots of solubilized membranes from nucleated bone marrow cells, a protein consistent with native erythropoietin receptor was seen. Purified soluble ectodomain of the erythropoietin receptor displayed appropriate reactivity with this antibody. When sera from normal subjects and patients with a range of hematologic disorders were examined by Western blotting, a protein with a molecular mass of 34 Kd was detected in sera from patients with enhanced erythropoiesis including sickle cell anemia, thalassemia, and megaloblastic anemia. This protein was rarely detected in normal serum but appeared when normal subjects were treated with recombinant erythropoietin and disappeared after full treatment of patients with megaloblastic anemia due to vitamin B12 deficiency. The protein was not detected after myeloablation for bone marrow transplantation but appeared with marrow engraftment. Reactivity of this protein with the peptide antibody was competitively inhibited by the amino terminal peptide sequence. An additional 48 Kd protein was detected that showed minimal variation in intensity with differing degrees of erythropoietic activity. Detection of this protein could not be inhibited by the addition of synthetic peptide. Our findings indicate the presence of a soluble form of the erythropoietin receptor related to the extracellular domain that is highly correlated with enhanced erythropoiesis.
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PMID:Serum form of the erythropoietin receptor identified by a sequence-specific peptide antibody. 887 30

The spinal cord, brain, optic nerves and peripheral nerves may be affected by vitamin B12 (cobalamin) deficiency. Deficiency of vitamin B12 also causes megaloblastic anaemia, meaning that the red blood cells are usually larger than normal. In this paper we report a 16-year old girl who was referred to us for the evaluation of mild paraparesis and paresthesias marked by tingling "pins and needles" feelings and general weakness. The patient, her parents and sisters were on a strict vegan diet, which made us believe that vitamin B12 deficiency may be the possible cause of the neurologic clinical manifestations. The serum level of vitamin B12 was low, but there was no macrocytosis in the routine blood examination. The electrophoresis of haemoglobin was pathologic, there was 3.7% of HbA2 and 11.6% of HbF (heterozygous form of beta-thalassaemia). When megaloblastic anaemia occurs in combination with a condition that gives rise to microcytic anaemia, many megaloblastic features may be masked. Instead of being macrocytic, the anaemia could be normocytic or even microcytic. Vitamin B12 deficiency is a diagnosis that must not be overlooked. This case report turns the light on the fact that increased MCV is a hallmark in vitamin B12 deficiency, but it is not an obligatory sign.
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PMID:Masked deficit of vitamin B12 in the patient with heterozygous beta-thalassemia and spastic paraparesis. 1574 9

Over a 2-month period, 200 type 1 diabetic patients attending a paediatric diabetic clinic in Cairo, Egypt were screened for anaemia and other complications of diabetes. The mean age was 11.2 years and the mean duration of diabetes was 4.0 years. Anaemia was diagnosed in 75 patients (37.5%) overall: 45 had microcytic hypochromic anaemia, 18 normocytic normochromic and 12 macrocytic hyperchromic. Of the 75, 41 patients (54.7%) had iron deficiency, 14 (18.7%) had folate deficiency and 14 (18.7%) had thalassaemia minor. Three patients (4%) had coeliac disease, and 18 patients (24%) had parasitic infections. None of the patients had hypothyroidism, renal failure or vitamin B12 deficiency.
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PMID:Prevalence and type of anaemia in young Egyptian patients with type 1 diabetes mellitus. 1676 66

The newborn's vitamin B12 storage exclusively comes from placenta transfer, later from animal food. We relate 3 observations of infants (3-11-13 months) with failure to thrive, anorexia, vomiting and for the two olders refusal of weaning, associated with psychomotricity regression and hypotony. Blood cell count showed a macrocytosis without anemia (case 2-3) and a severe microcytic anemia for the first case caused by a mild alpha-thalassemia, with megaloblastic bone marrow. Vitamin B12 levels were very low associated with increased methylmalonic acid and homocysteine serum levels which confirm the diagnostic . Cerebral imaging showed diffuse cortical atrophy. Cobalamin deficiency was caused by strict vegetarian diets mothers of breastfed infants (cases 2-3) and for younger by mother's unrecognized pernicious anemia. 3 mothers had no anemia and normal B12 's levels at diagnosis. Vitamin B12 supply lead to a rapid clinical and hematologic improvement. In two cases, neurologic recovery was incomplete. About one hundred case of B12 deficiency 's infant are reported, 2/3 are breast-fed by vegetarian mothers, and 1/4 have mothers with pernicious anemia. The failure to thrive is due to anorexia, refusal of weaning and partial villous atrophy. Neurologic manifestations are secondary to cerebral disorders, sometimes revealed by an exposure to anesthetic nitrous oxyd. The macrocytic anemia is inconstant. The etiologic research of developmental delay in an infant may include vitamin B12's deficiency, even if there is no haematologic signs, especially if breast-fedding 's mothers is vegetarian.
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PMID:[Failure to thrive and psychomotor regression revealing vitamin B12 deficiency in 3 infants]. 1741 72

Cobalamin (vitamin B12) deficiency could be masked by lack of hematological abnormalities or by concomitant conditions associated with microcytosis such as iron deficiency and thalassemia traits. We examined blood and bone marrow morphology, serum ferritin and vitamin B12 levels and fasting gastric pH in nine patients who were suspected to have vitamin B12 deficiency with unusual manifestations. Two patients had neurological symptoms without any hematological abnormalities, two had thalassemia traits, and five had achlorhydria with severe iron and B12 deficiencies. Serum B12 was low in all cases, bone marrow was diagnostic in seven cases and peripheral blood showed hypersegmentation of neutrophils only in five cases. We conclude that vitamin B12 deficiency could be masked by lack of hematological changes or by concomitant causes of microcytosis and that serum vitamin B12 levels as well as other ancillary tests should be considered in all suspected cases.
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PMID:Unusual presentation of vitamin B12 deficiency. 1759 Jun 66


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