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

The prevalence of the different types of thalassaemia and that of iron deficiency anaemia was investigated in 1020 schoolchildren (age range: 6-15 years) from the north-eastern Badia region of Jordan. beta-thalassaemia minor was the most prevalent (3.04%), followed by alpha 2-thalassaemia (2.06%). Only three cases of alpha 1-thalassaemia and one case of beta-thalassaemia major were found. Iron deficiency anaemia was diagnosed in 54 children (5.3%) (33 males, 21 females). The mean values of the blood characteristics of the normal, haemoglobinopathic and iron-deficient children were examined and compared.
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PMID:Prevalence of thalassaemia in schoolchildren in north-eastern Badia, Jordan. 1192 6

We report a 43-year-old Japanese woman with microcytic and hypochromic anemia, who had been erroneously diagnosed as having iron deficiency anemia 20 years previously at the time of her first labor, and treated with iron and blood transfusion. At the present visit to our clinic, she was found to have an increased HbA2 level and prolonged glycerol lysis time. Genetic analysis of the beta-globin gene revealed deletion of 3 bases at codons 127/128 (CAG/GCT-->CCT). A genetic study of the patient's family showed that two of her four children possessed the same mutation. The patient had mild anemia, her first son had very mild anemia, and her second daughter had moderate anemia with hemolysis. These affected family members were diagnosed as having dominant-phenotype beta-thalassemia.
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PMID:[A family with dominant-phenotype Beta-thalassemia]. 1197 52

Caution is called for in providing family planning counseling and contraceptive prescriptions for women with hematological disorders. Iron deficiency anemia is a common problem among women of reproductive age. During menstruation women's need for iron intake is 3 times that of men. Oral contraceptives (OCs) are an appropriate contraceptive choice for iron deficiency anemia patients since OCs are associated with reduced blood loss during menstruation. Most IUDs, and especially unmedicated and copper bearing devices, should not be used by women with iron deficiency anemia. Progestin releasing IUDs tend to increase hemoglobin and serum ferritin levels, therefore, patients with iron deficiency anemia may benefit from progestin releasing IUD insertions. Women with hemorrhagic disorders, such as hemophilia, purpuras, and platelet number and function disorders frequently experience menorrhagia. OCs are an appropriate contraceptive for many patients with these disorders. Several studies indicate that patients with hemorrhagic disorders frequently experience reduced bleeding problems when they use OCs. IUDs are contraindicated for women with hemorrhagic diseases because IUDs may increase blood loss. Women with sickle cell hemoglobinopathies need careful counseling. Pregnancy for these women entails high morbidity and mortality risks. Series data shows that pregnant women with sickle cell hemoglobinopathies have a 4%-100% risk of maternal morbidity and a 1%-35% risk of maternal mortality. The risk of maternal morbidity and mortality is equally high for women with hemoglogin sickle cell disease but somewhat lower for women with sickle cell thalassemia. Women with these diseases should be informed about the risks associated with pregnancy. These patients may want to consider sterilization. Oral and IUD contraceptives are contraindicated for patients with these disorders; the former, because it may have a thromboembolic effect, and the latter, because it is associated with high blood loss. There are some reports that progesterone protects against sickling, but more intensive studies must be undertaken before progesterone can be recommended for women with sickle cess disorders. If patients insist on using an OC, a minipill may be prescribed. Barrier methods are probably the best choice for sickle cell disorder patients.
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PMID:Patients with hematologic disorders need careful birth control counseling. 1226 20

The purpose of the present study was to quantify the effect of iron deficiency anaemia on the levels of HbA2, HbF, and HbA1C. Complete blood counts (CBC) were performed on 730 university students. Serum ferritin, HbA2, HbF, and HbA1C levels were determined for all microcytic/hypochromic subjects. It was found that 81 (11.1%) of the students were microcytic/hypochromic, of which 47 (58.1%) were found to be iron deficient. Twenty-six (32.1%) were beta-thalassemia carriers, 4 (4.9%) were beta-thalassemia carriers with iron deficiency and 4 (4.9%) remained undiagnosed. All the anaemic students were treated with oral iron and followed for 20 weeks. The mean HbA2 level rose significantly (from 1.89% +/- 0.45 to 2.19% +/- 0.53, P < 0.001) after iron treatment. HbF levels were not significantly different after iron treatment (0.94% +/- 0.18 before and 0.95% +/- 0.17 after treatment, P > 0.05). HbA1C fell significantly after iron treatment, from a mean of 6.15% +/- 0.62 to 5.25% +/- 0.45 (P < 0.001). In conclusion, iron deficiency must be corrected before making any diagnostic or therapeutic decisions based on HbA2 and HbA1C levels.
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PMID:The effect of iron deficiency anaemia on the levels of haemoglobin subtypes: possible consequences for clinical diagnosis. 1275 2

Thalassemia (thal) is one of the most prevalent congenital disorders in a world, especially in an endemic area of Plasmodium falciparum. The thal is relatively rare in northeast Asia including Japan where malaria is uncommon. However, thal in Japan has peculiar mutation spectrum and characteristics. Most b-thal patients in Japan are heteorozygote and thal minor as a phenotype. They are prone to be misdiagnosed as iron deficiency anemia. Thirty-four mutations of b-thal were thus far identified, and ten of which comprise 80% of beta-thal carriers. Among them 60% are unique to Japanese and 40% possibly from abroad. The exception is homozygote for -31G-A which leads to thal intermedia by beta(+)-thal phenoytpe. More than a half of patients with alpha-thal are of Southeast Asian type, but mutations of the remaining patients seem to be unique to Japanese and yet undetermined. Thus, Japanese thal's have dual origin. The frequency of beta-thal is one in 600 to approximately 1,000 of general population, and that of alpha(+)-thal (- alpha/) is one in 400. Thus, alpha-thal trait (- alpha/- alpha) is extremely rare. Another alpha-thal trait (- -/alpha alpha) would be one fifth of beta-thal. Seventeen families of HbH disease (- -/- alpha) were found. Many of them are related to Southeast Asian. Cases of non-iron deficient microcytosis and positive in the screening for hemoglobinopathies are subjected to gene analysis using allele-specific PCR, SSCP, direct sequencing and gap PCR. Precise breakpoints with large deletion are being identified by gene dosage and PCR instead of conventional Southern blotting and cloning. Most Japanese thal's are asymptomatic (or not hemolytic) except for microcytosis. However, dominant-type b-thal (or Heinz body beta-thal) are found, and their clinical phenotype vary with mutations. Some of them become symptomatic transiently. This is also seen in beta-thal coexisting with alpha-triplication. Acute exacerbation or transient appearance of Heinz body is seen in ordinary thal mutations on physical conditions such as pregnancy.
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PMID:Thalassemia mutations and their clinical aspects in Japan. 1243 Sep 6

Seventy-two healthy infants (37 males, 35 females) attending a private well baby clinic were enrolled in the study. Their mean birthweights and body weights at one year of age were 3,079 grams and 10 kilograms, respectively. Blood samples were drawn approximately on their first birthday for evaluating the iron status. Complete blood count, hemoglobin (Hb) typing and DNA analysis for common carrier status of thalassemia and hemoglobinopathis were also determined. According to the infants of serum ferritin, the patients were classified into 4 groups: group 1, iron deficiency anemia (Hb <11 g/dl and ferritin <12 ng/L) in 1 infants (1.4%); group 2, iron deficiency without anemia (Hb >11 g/dl and ferritin <12 ng/L) in 5 infants (6.9%); group 3, borderline iron depletion (ferritin 12-30 ng/L) in 39 infants (54.2%); group 4, iron sufficiency (ferritin >30 ng/L) in 27 infants (37.5%). The iron deficiency state emerged as 8.3 per cent (6/72). There was no significant difference of levels of Hb and mean corpuscular volume (MCV) among the infants with iron deficiency without anemia, borderline iron depletion and iron sufficiency. The results also revealed that 25 out of 72 (34.7%) infants were carriers of thalassemia and hemoglobinopathies. The carrier infants had significant lower Hb and MCV than those of the non-carrier infants with the p-values of 0.004 and 0.000, respectively; while their serum ferritin levels were not significantly different. Additionally, the association of carrier and iron deficiency state was further evaluated. The Hb and MCV among carrier infants with and without iron deficiency were not significantly different. Six infants with carrier state were found to have slightly decreased levels of Hb ranging from 10.3 to 10.9 g/dl with the ferritin ranging from 18.7 to 382.9 ng/L while the remainders had Hb of >11 g/dl. Therefore, 7 out of 72 (9.2%) infants had anemia (Hb <11 g/dl) which was caused by the carrier state of thalassemia and hemoglobinopathies (n=6) and iron deficiency anemia (n=1). The risk factors of iron deficiency status were associated with feeding regimen including continuation of breast feeding until one year of age without adequate haem iron supplement, exclusive formula feeding, inadequacy of solid food supplement with only one meal per day and excluding haem iron from animal liver without substitution. The infants with risk factors had significantly lower levels of serum ferritin (mean 14.1 +/- 1.7 ng/L) than those without risk factors (mean 31.9 +/- 1.9 ng/L) with a p-value of 0.000. In conclusion, adequate haem iron supplement in 3 meals of solid food is essential for the prevention of iron deficiency status in one-year-old infants.
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PMID:Iron status of one-year-old infants in a well baby clinic. 1254 80

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

Dysfunction of cell membrane is a recognized consequence of the pathogenetic process underlying the beta-thalassemia syndromes and it is reasonable to hypothesize that surface structures crucial for the development of erythroid lineage may also be affected. The study included six adult splenectomized patients with beta-thalassemia intermedia. Expression of alpha4beta1 integrin (CD49d/CD29), alpha5beta1 integrin (CD49e/CD29) and transferrin receptor (CD71) on peripheral blood and bone marrow erythroblasts and on erythroid precursors grown in vitro was studied by flow cytometry and immunocytochemistry. Serum soluble transferrin receptor levels (sCD71) were also measured with enzyme-linked immunosorbent assay. In beta-thalassemic patients, significant reduction of CD49d, CD29 and CD71 expression was found in peripheral blood nucleated red cells, compared to patients presenting with erythroblasts in the circulation because of other diseases. Marrow erythroblasts were also deficient for the same molecules against the erythroblasts in iron deficiency anemia. All molecules tested were greatly diminished on erythroid precursors developed in vitro from the patients' cells. Serum sCD71 levels were much higher in thalassemic patients in comparison to both patients with iron deficiency anemia and healthy individuals. The loss of certain integrins and CD71 from erythroid precursors in beta-thalassemia intermedia could be attributed to a generalized membrane dysfunction, perhaps affecting the integrity of their transmembrane domains. The elevation of serum sCD71 levels may be the result of the increased red cell lineage turnover or, alternatively, may indicate increased shedding from the cells to prevent iron overload. In any case, further molecular study of the membrane components is warranted to provide a better understanding of the pathogenetic process in beta-thalassemia syndromes.
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PMID:Decreased expression of membrane alpha4beta1, alpha5beta1 integrins and transferrin receptor on erythroblasts in splenectomized patients with beta-thalassemia intermedia. Parallel assessment of serum soluble transferrin receptors levels. 1290 99

Laboratory investigation plays a crucial role in the workup of hematological disease. The well established method of morphological analysis of blood components has been continuously complemented by other methods. On one hand, these consist of considerable improvements of methods employed for automated cell enumeration allowing for early and accurate detection of cell subpopulations, and quantification of valuable red cell parameters, which are of use in the differential diagnosis of anemia. On the other hand, several parameters for the differentiation of microcytic anemia have become available often allowing for the sometimes difficult diagnosis of anemia of chronic disease, iron deficiency anemia, or thalassemia (ferritin, soluble transferrin receptor, transferrin saturation, RDW, zinc protoporphyrin, as well as reticulocyte indices CHr, Ret-Y Hypo%). In macrocytic anemia, introduction of methods to measure methylmalonic acid (MMA), homocystein, holotranscobalamin (holo-TC), complement the determinations of vitamin concentrations (vitamin B12, folic acid in serum and erythrocytes). Employing these newer parameters in addition to the well established ones allows for detection of early or combined disease. The clinician has to know the diagnostic characteristics not only of the old but also of the newer parameters.
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PMID:[Conventional and new laboratory parameters in the evaluation of hematologic disease]. 1501 92

We evaluated the ability of serum transferrin receptor (sTFR) to identify different types of anaemia in children. Thus 150 Egyptian children suffering from anaemia (iron deficiency anaemia, anaemia of chronic disease and beta-thalassaemia) were enrolled, together with 50 controls. There was a significant increase in the mean levels of sTFR in the groups with iron deficiency anaemia and thalassaemia, and a significant decrease in mean sTFR levels in the group with anaemia of chronic disease. Serum ferritin levels were significantly higher in all patient groups except the group with iron deficiency anaemia. There were also significant correlations between the sTFR and sTFR/log ferritin ratio (sTFR-F index) and different indices of iron status and of erythropoiesis. The sTFR-F index could be used as a diagnostic or screening tool for iron deficiency anaemia, anaemia of chronic disease and thalassaemia.
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PMID:Suitability of soluble transferrin receptor for the clinical diagnosis of different types of anaemia in children. 1533 17


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