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

Serum ferritin, serum iron, and unsaturated iron binding capacity were studied in 64 patients with beta homozygous thalassemia (BHT), 120 patients with beta heterozygous thalassemia, and 46 normal subjects. Incidence of iron overload seen in 32 BHT cases was similar in untransfused and transfused cases. Among heterozygotes, iron stores were depleted in 24 (20%), mostly females (70.8%). Only male heterozygotes but not normals were iron deficient. In 18 (75%) heterozygotes with depleted iron stores, transferrin saturation (TS) was normal. It was also normal in 8 (25%) BHT patients and 5 (100%) heterozygotes with iron overload. In 13 (35.1%) BHT patients, it was raised in the absence of iron overload. It was concluded that iron deficiency in heterozygotes is of greater magnitude, especially in females, than hitherto known in India. Transferrin saturation is not a good indicator of either iron depletion or overload. Iron supplementation is recommended in heterozygous beta thalassemia in infants, children, and expectant mothers in geographic areas with high incidence of iron deficiency.
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PMID:A study of serum ferritin in beta thalassemia. Iron deficiency and overload. 401 70

Using an electronic blood cell counter, the authors determined the hemoglobin, hematocrit, red cell count, mean corpuscular volume, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration of 3,668 healthy black adults (1,515 men and 2,153 women) screened 1977-1980 at a mobile health unit operating in Washington, DC, and the surrounding counties in Virginia and Maryland. As expected, males had higher hemoglobin levels than females at all ages. However, these differences diminished with age, both because of a slight increase in hemoglobin values among older females and a decrease in hemoglobin values among older males. Cumulative frequencies of hemoglobin, mean corpuscular volume, and mean corpuscular hemoglobin were plotted using probability scales. Among black males, subpopulations with low hemoglobin values and low red cell indices were identified. Because iron deficiency is uncommon in adult males, these findings are probably attributable to alpha- and beta-thalassemia traits. Among black females, individuals with microcytic and hypochromic red cells were detectable at all ages, but a clearly identifiable group with low hemoglobin did not become apparent until after 60 years of age. The authors speculate that mild iron deficiency may have selectively affected the hemoglobin level of non-thalassemic females.
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PMID:Electronically determined red blood cell values in a large number of healthy black adults. Subpopulations with low hemoglobin and red blood cell indices. 401 84

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

Classification of platelet disorders has been based on the platelet count. Addition of a second variable, mean platelet volume (MPV), to the routine blood count allows classification of patients into 9 categories: high, low, or normal MPV, and high, low or normal platelet count. We studied 1,244 adult inpatients. 1,134 had both platelet values normal. 11 patients had high MPV and low platelet count: all had hyperdestructive causes. 15 patients had high MPV and normal platelet count: 12 had heterozygous thalassemia, and three had iron deficiency. Seven patients had high MPV and high platelet count: causes included myeloproliferative disorders, inflammation, iron deficiency, and splenectomy, 25 patients had high platelet counts and normal MPV: the causes were inflammation, infection, sickle cell anemia, iron deficiency, or chronic myelogenous leukemia. 52 patients had an MPV that was inappropriately low for the platelet count (high, normal, or low). All had sepsis, splenomegaly, aplastic anemia, chronic renal failure, or a disease being treated with myelosuppressive drugs. High MPV thus appears correlated with myeloproliferative disease or thalassemia; and low MPV, with cytotoxic drugs or marrow hypoplasia. Addition of MPV to the platelet count allows subtler disorders to be detected (when the platelet count is normal), and allows distinction of the cause of thrombocytopenia.
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PMID:Use of mean platelet volume improves detection of platelet disorders. 407 87

A 36 year old local Englishman from Nuneaton was referred to hospital with suspected glandular fever. Relevant tests were negative and the symptoms subsided in due course. The finding of a hypochromic microcytic blood picture without iron deficiency led to the discovery that he was heterozygous for Hb D and beta thalassaemia. Hb D trait was established in the father of the proband and beta thalassaemia in his mother and a brother. The father's ancestors were miners who came to Nuneaton from Monmouthshire in the 19th century. The mother's ancestors have belonged to the indigenous population of Nuneaton and neighbouring Leicestershire since the 18th century. Twenty local members of her wider family also had thalassaemia. All thalassaemias had a low MCH and raised level of Hb A2. The Hb F level, however, was normal in five, demonstrating the independent segregation of genetic factors influencing the Hb F level in beta thalassaemia trait.
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PMID:The first observation of Hb D Punjab beta zero thalassaemia in an English family with 22 cases of unsuspected beta zero thalassaemia minor among its members. 407 67

The graphic recording of time to 50% haemolysis in a glycerine-saline solution is a simple, reproducible method of determining erythrocyte osmotic fragility. Studies on a normal population yielded an upper limit of normal of 90 s. In 250 healthy males from Northern Thailand all 19 with beta-thalassaemia minor had abnormal osmotic indices, and the value of the test was confirmed in beta-thalassaemia heterozygotes in Europe. Of 23 patients with iron deficiency 18 had abnormal osmotic indices. However, this is not thought likely to be a significant source of false positives in the screening of populations at risk of haemoglobinopathies but in whom iron deficiency is rare.
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PMID:Population screening for beta-thalassaemia. 610 57

In 207 children chemical measurement of total iron binding capacity (TIBC) and direct immunological evaluation of transferrin by radial immunodiffusion were compared. In addition, serum ferritin was measured in nearly all cases, to exclude iron deficiency. In 14 newborns, 20 infants and 35 older children TIBC and transferrin values correlated significantly (p < 0.001), as well as in various disorders (infections, hyporegenerative anemia, beta-thalassemia, acute blood loss) and in prelatent, latent and manifest iron deficiency. Standard deviations of both methods were comparable. Anemia and hyposideremia due to infection could be clearly distinguished from iron deficiency of all stages. The diagnosis of prelatent iron deficiency, however, can be definitely established only by measurement of serum ferritin or other more complicated procedures (59Fe2+-whole body retention test, estimation of diffuse iron in bone marrow macrophages). An interesting finding was the negative significant correlation (r = 0.69) between the two iron binding proteins in serum, transferrin and ferritin. In summary, the simple radial immunodiffusion technique for transferrin with its minimal requirement of serum can be recommended for pediatric routine laboratories in the differential diagnosis of anemia and hyposideremia, before unnecessary iron medication is institued.
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PMID:[Comparison of indirect and direct measurement of transferrin in healthy and sick children (author's transl)]. 610 44

The early identification of some clinically significant hemoglobinopathies and the precise differentiation of hemoglobin variants are important to provide early comprehensive medical care to prevent some serious complications, assess prognosis, and offer genetic counseling. Laboratory approaches to screen for and confirm inherited hemoglobinopathies in children are presented. Methods include routine screening procedures as well as techniques available in research laboratories, with emphasis on readily available procedures. Since microcytic hypochromic anemia is the most common type of anemia in children under two years, attention is given to the differentiation of thalassemia trait from iron deficiency. The step-by-step work-up is also described for differentiating beta-thalassemia from alpha-thalassemia.
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PMID:Laboratory identification of inherited hemoglobinopathies in children. 616 96

Nonparametric correlation coefficients and cumulative frequency distributions of hematologic data and birth weight obtained from 151 mothers and most of their newborns have been analyzed. Taken overall, the data reaffirm considerable fetal autonomy in maintaining hematologic homeostasis; a dissociation was found between maternal and newborn hemoglobin (Hb) levels, there was no evidence for an effect of maternal iron deficiency on the fetus, nor was birth weight correlated with maternal Hb levels. However, the lack of significance of the latter two correlations was apparent only when three maternal-newborn pairs with alpha-thalassemia were excluded from analysis. An inverse relation was found between birth weight and Hb level in the newborn, and this was present over the entire birth weight range, rather than being restricted to small-for-gestational-age newborns.
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PMID:Correlations and cumulative frequency distributions of maternal and newborn hematologic data. 616 86

Many authors proposed erythrocytes discriminating functions to differentiate most common microcythemic hypochromic anemias (beta-thalassemia and iron deficiency). This study considers two of these discriminating functions: 1. Mentzer's index; 2. Srivastava's index; and also test GLT50 proposed by Authors with the same aim. The purpose is to quantify the percent of false positive and false negative results of such tests. As standard the test of measurement HbA2 and HbF was used to classify thalassemic patients. The results prove that the Mentzer test is the best while, not highly specific (20% false positive), but we did not find any false negatives in our study. Srivastava's method for the presence of false negatives (7% of thalassemic patients) is less reliable, and even less so the GLT50 test (30% of thalassemic patients).
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PMID:[Determination of the diagnostic value of erythrocyte discrimination indices (Mentzer and Srivastava) and of glycerol lysis time (GLT 50) in microcytosis]. 618 67


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