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

Hemoglobin (Hb) electrophoresis is widely used in thalassemia screening. Most Hb variants express a specific abnormal band on the cellulose acetate membrane. The technique is useful in the diagnosis of the type of thalassemia but is not sensitive enough to detect alpha-thalassemia minor because the quantity of the HbH is too small to be expressed on the supporting medium. We used simple staining of blood smears rather than the sophisticated molecular method to detect HbH inclusions. To evaluate the effectiveness of this method, we used brilliant cresyl blue (BCB) staining of red blood cells in 509 patients with microcytosis and erythrocytosis caused by various conditions. The results indicate that BCB staining is useful in the identification of subjects who possess alpha-thalassemia traits. Coexisting conditions such as beta-thalassemia and iron-deficiency anemia did not affect the detection of the HbH inclusions with the use of BCB staining. We conclude that BCB staining is helpful and reliable as an auxiliary method of detecting HbH inclusions in the diagnosis of alpha-thalassemia traits, especially in places where medical resources are limited.
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PMID:Usefulness of brilliant cresyl blue staining as an auxiliary method of screening for alpha-thalassemia. 1574 52

Hemoglobin (Hb) A2' is a hematologically silent variant of HbA2 that is detected easily by high-performance liquid chromatography (HPLC), where it elutes in the S window. Our purposes were to define diagnostic criteria for the HbA2' trait using the Variant II (Bio-Rad, Hercules, CA) and to determine the prevalence of HbA2' in a metropolitan patient population. All Hb screens (N = 5,862) performed during a 26-month period were reviewed for new hemoglobinopathies. We identified 57 cases of HbA2' trait, making it the fourth most prevalent Hb variant detected in this population after HbS, HbC, and beta-thalassemia minor For HbA2' trait cases, the mean HbA2 level was 1.7% (SD, 0.17%), and the mean HbA2' level was 1.3% (SD, 0.18%). Six possible HbA2'/beta-thalassemia double heterozygotes were identified, for whom the sum of the HbA2 and HbA2' exceeded 4% of total Hb. Hb variants that might interfere with detection of HbA2' include HbS, glycosylated HbC, and HbG2. Diagnostic criteria proposed for the HbA2' trait by HPLC are HbA2 of 2% or less, S window peak of 1% to 2%, no previous diagnosis of HbS, and absence of HbG and HbC.
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PMID:The detection and diagnosis of hemoglobin A2' by high-performance liquid chromatography. 1598 5

A new (G)gamma(A)gamma(deltabeta)O-thalassemia (thal) was found in six unrelated Japanese individuals, and characterized by a method employing only polymerase chain reaction (PCR) and direct sequencing. This (G)gamma(A)gamma(deltabeta)O-thal mutation has removed a fragment of about 27 kb of DNA, that starts approximately 2.8 kb downstream of the Agamma-globin gene and ends in the L1 repeat sequence, 7.0 kb downstream of the beta-globin gene. The 5' breakpoint is similar to that of the previously reported Japanese (G)gamma(A)gamma(deltabeta)O-thal (called here Jpn type 1 for convenience). However, the 3' endpoint is quite different. This new Japanese deltabeta-thal, designated as Japanese type 2 (Jpn type 2), shows a deletion rather similar to Turkish type 3 deltabeta-thal but with 5' and 3' breakpoints located inside the deletion of Turkish type 3. A mutation-specific gap PCR was designed to diagnose patients with the Jpn type 2 (G)gamma(A)gamma(deltabeta)O-thal. The identified carriers exhibited a thalassemia minor.
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PMID:A novel (g)gamma(a)gamma(deltabeta)O-thalassemia with a 27 kb deletion. 1611 83

There are few studies investigating alpha globin gene triplications in beta-thalassemia in Asian Indians and its effect on phenotype, which was the primary aim of this study. Gap-PCR was performed in order to detect common alpha thalassemia determinants (-alpha(3.7), -alpha(4.2) and alpha alpha alpha(anti 3.7) triplication). Alpha-triplication was detected in 15.4% (10/65) of patients with thalassemia intermedia, 8.8% (4/45) of those with thalassemia minor and in 2.7% (2/74) of healthy controls. The severity of jaundice was higher in thalassemia intermedia cases with alpha-triplication and two of the alpha-triplication cases had a marked increase in serum bilirubin following intercurrent illness. Thus, alpha globin gene triplication is important genetic determinant underlying thalassemia intermedia in North Indians. Patients with alpha-triplication may develop prominent jaundice with marked increase in serum bilirubin following antecedent aggravating factors.
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PMID:Jaundice and alpha gene triplication in beta-thalassemia: association or causation? 1675 51

Thalassemia is an inherited blood disorder that has been receiving increasing attention in India. However, prevention of thalassemia in India continues to be difficult despite efforts of public health professionals and the government. Using West Bengal as a case study, this paper attempts to unravel some of the barriers to the prevention campaign and the consequent under utilization of the program. Lack of access, low awareness, low-risk perception and poverty are all important proximate constraints; however, one of the greatest barriers to the program is rooted in cultural notions of blood, marriage, identity, personhood and kinship in Bengali society. Blood is so deeply valued in the Bengali kinship system that this genetic mutation is perceived to be corrupting the blood (rakter dosh). Being a thalassemia carrier (i.e., having thalassemia minor) renders an individual unfit as a suitable marriage partner because of beliefs related to purity of blood, its association with the continuity of the lineage, and subsequent transmission of desirable traits to future generations. The risk of non-marriage affects women disproportionately, and parents are not inclined to test their daughters because of the possibility of not being able to marry them off to eligible suitors. The stigma associated with having thalassemia minor (TMI) is a deterrent to the disclosure of thalassemia status as well as to testing. Using anthropological theories and ethnographic methods, this paper focuses on the gendered process by which the diagnosis of a thalassemia carrier 'spoils' identities, thereby creating a disjuncture between the goals of the prevention program and people's need for social conformity, and ultimately between medical desirability and social desirability. The paper also suggests policies for enhancing the utilization of the program. Finally the conclusions from this study have potential applications for public health prevention programs that confront problems of stigma in program acceptability.
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PMID:'Rakter dosh'--corrupting blood: The challenges of preventing thalassemia in Bengal, India. 1690 96

Iron deficiency anemia (IDA) and thalassemia minor are two of the most common causes of microcytic anemias worldwide. Because of similar red blood cell count parameters and blood picture, it was imperative to develop other measures that would differentially and correctly diagnose these two anemias. Several mathematical formulas and simple RBC indices have been introduced as simple, fast and inexpensive means of providing differential diagnosis for IDA and thalassemia minor. The Objective of this study was to apply and compare nine well-documented discriminant functions on a population of 153 confirmed cases of microcytic anemias (IDA n = 56, beta-thalassemia minor n = 47 and alpha-thalassemia n = 50) and to measure validity using Youden's Index. The results show that England and Fraser (E & F) Index had the highest Youden's Index value (98.2) in correctly differentiating between IDA and alpha- and beta-thalassemia minor, while Shine and Lal Index was found ineffective in differentiating between microcytic anemias in our population. E & F Index showed with great sensitivity and specificity to be the best discriminant function to differentiate between IDA and thalassemia minor cases.
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PMID:Validity assessment of nine discriminant functions used for the differentiation between iron deficiency anemia and thalassemia minor. 1716 36

A patient with thalassemia minor and idiopathic scoliosis was scheduled for posterior vertebral arthrodesis. The diagnosis of thalassemia minor was made during the preoperative assessment. Preoperative blood cell count displayed the following data: red blood count 5.4 x 106/microL, haemoglobin 11.6 g/dL and hematocrit 36.9%. As corrective surgery for scoliosis is associated with major blood loss, the patient was scheduled for preoperative treatment with human recombinant erythropoietin (rHuEPO), autologous blood donation, intraoperative blood cell salvage and administration of tranexamic acid. The use of rHuEPO was intended to increase hemoglobin (12.1 g/dL) levels at the moment of surgery following the donation of 2 autologous blood units. 1000 mL of salvaged blood were processed. The output line of the blood cell salvage machine did not show any sign of increased red cell haemolysis. The postoperative course was uneventful and the patient was discharged from the postoperative intensive care unit on day 7 after surgery with no allogenic blood transfusion. No references detailing the use of rHuEPO and autologous blood donation preoperatively in patients with thalassemia minor and only one case report discussed the utility of intraoperative blood cell salvage in a patient with thalassemia intermedia. Although further experience is needed, this case report suggests that even for patients with thalassemia minor, methods focused on allogenic blood salvage can be used safely.
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PMID:Bloodless surgery in a patient with thalassemia minor. Usefulness of erythropoietin, preoperative blood donation and intraoperative blood salvage. 1752 23

Genetic and acquired disorders that foster a procoagulable state represent risk factors for stroke in childhood. Although an increased incidence of thromboembolic complications has been reported in patients with thalassemia, severe cerebral thromboembolism has rarely been observed in patients with beta-thalassemia minor. This article describes a case study of a 1-year-old boy who presented with left-sided hemiparesis, seizures, microcytic anemia, and recent infection with reactive thrombocytosis. Ischemic infarction in the territory of the right middle cerebral artery was confirmed by magnetic resonance imaging and magnetic resonance angiography. Genetic tests showed that the patient was heterozygous for the beta(degrees) -thalassemia IVS-I-1 mutation and homozygous for the methylentetrahydrofolate reductase C677T mutation. Based on these findings, it was concluded that the synergistic effects of multiple, genetic, and acquired prothrombotic risk factors brought about the hypercoagulable state that resulted in overt stroke in a thalassemic patient in early childhood.
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PMID:Arterial ischemic stroke in a child with beta-thalassemia trait and methylentetrahydrofolate reductase mutation. 1762 84

We observed increased numbers of an infrequently referenced poikilocyte, the prekeratocyte, in iron deficiency anemia (IDA) compared with beta-thalassemia minor and anemia of chronic disease (ACD) and, therefore, chose to quantify these cells and other morphologic features in these anemias. Prekeratocytes were observed in 31 (78%) of 40 IDAs vs 11 (37%) of 30 beta-thalassemias (P = .001) and 5 (13%) of 40 ACDs (P < .001) and averaged 0.78 per 1,000 RBCs in IDA vs 0.21 in beta-thalassemia (P < .001) and 0.075 in ACD (P < .001). Pencil cells also were more commonly seen and more numerous in IDAs than in beta-thalassemia or ACD. Target cells were present in most IDAs and thalassemia and in similar numbers. Basophilic stippling was seen in only 5 (17%) of the beta-thalassemias. Our results lend quantitative support to prekeratocytes and pencil cells as morphologic features favoring the diagnosis of IDA but fail to support the diagnostic usefulness of target cells and basophilic stippling in discriminating IDA and beta-thalassemia minor.
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PMID:Iron deficiency anemia, beta-thalassemia minor, and anemia of chronic disease: a morphologic reappraisal. 1869 90

Quantitation of hemoglobin alpha 2 delta 2 (HbA2) is a basic and confirmatory test in diagnosing the carrier state of beta-thalassemia. The present study was designed to investigate the effect of cigarette smoking on the diagnostic reliability of HbA2. A total of 2,867 (654 smokers and 2,213 never smokers) male subjects were involved in the present study. The subjects were categorized into three groups according to their laboratory findings: beta-thalassemia minor, iron deficient, and normal groups. Complete blood count (CBC) parameters and HbA2 levels were compared between smokers and never smokers of each group according to the independent-samples t-test using the SPSS program, significance results were reported at P<0.05. The results showed a significant increase in red blood cell (RBC) mass (RBC count and hematocrit [Hct]) and Hb concentration in smokers of all groups; however, no significant differences were reported in the HbA2 level between smokers and never smokers in all groups. It was concluded that cigarette smoking does not affect the diagnostic reliability of the HbA2 test.
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PMID:Does cigarette smoking affect the diagnostic reliability of hemoglobin alpha 2 delta 2 (HbA2)? 1834 10


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