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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Learning during genetic counseling is often below expectations, especially in the context of genetic screening. In this report we describe learning as a result of genetic counseling of 298 pregnant women identified as hemoglobinopathy carriers, 234 with sickle cell trait and 64 with beta-thalassemia trait. Counseling was designed to provide the information needed in a simple, clear, and nondirective manner. A special videotape produced for this purpose provided dramatization and a role model illustrating an appropriate response. After viewing the videotape the counselee had an opportunity to question the counselor and to have any misconceptions corrected. Questionnaires revealed significantly increased knowledge as a result of counseling in each of the three hemoglobinopathy subject areas tested-namely, clinical manifestations, genetics, and prenatal diagnosis. Five factors correlated with higher knowledge scores after counseling-namely, a younger patient age, more years of education, knowledge of having trait before this identification, knowledge of the baby's father having trait before counseling, and having no prior children.
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PMID:Prenatal screening for hemoglobinopathies. II. Evaluation of counseling. 199 29

A comprehensive prenatal hemoglobinopathy screening program in Rochester, NY, has been described in a preceding paper in this issue of the Journal. A woman identified as a carrier may face three decisions. The first is whether to accept the offer of counseling. The second is whether to have her partner tested. If her partner also tests positive, then the third decision is whether to accept the offer of prenatal diagnosis. This report analyzes factors affecting her decision, with special attention being given to factors invoked by the Health Belief Model. Factors predicting that a patient who we identified as a carrier would come for counseling included the following: patient had no prior knowledge that she is a carrier (P less than .001), a gestational age less than 18 wk (P less than .01), and Caucasian race (P less than .05). For sickle cell trait counselees and beta-thalassamia trait counselees, factors found to predict patient's intent to have partner tested were the following: a greater postcounseling knowledge of the disease (P less than .009), a lesser perceived burden of intervention (P less than .011), and belief that the partner is also a carrier (P less than .008). Also for sickle cell trait counselees and beta-thalassemia trait counselees, factors predicting that the partner actually will be tested were the following: living with the partner (P less than .001), gestational age at identification less than or equal to 18 wk (P less than .001), a lesser perceived burden of intervention (P less than .002), and a greater perceived seriousness of the disease (P less than .05).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Prenatal screening for hemoglobinopathies. III. Applicability of the health belief model. 199 32

Hb A2 was determined in 477 subjects: 77 were affected by iron deficiency anemia, 172 were carriers of beta-thalassemia trait and 228 were normal controls. Hb A2 was determined by both DE-52 microchromatography and high-performance liquid chromatography (HPLC). The analysis of the data by linear regression demonstrated that the methods furnish overlapping results. Our findings show that HPLC is a rapid and easily reproduced method which allows a quantitative and qualitative discrimination of the various Hb fractions, making it a valid tool in screening programs for hemoglobinopathies.
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PMID:Comparative approach to the evaluation of hemoglobin A2 by two different methods: high-performance liquid chromatography and DE-52 microchromatography. 211 13

Until now, no systematic strategy for the prevention of major hemoglobinopathies has been implemented in southeastern France, in spite of frequencies of beta-thalassemia trait and HbS trait as high as 2.5-8% in some ethnic populations. The purpose of the study was to help a group of experts, brought together by the Regional Center for Disease Control, to reach a consensus about screening for carriers of heterozygote hemoglobinopathies. A multicriteria decision-analysis model was used to take into account not only the costs and effectiveness of potential screening strategies, but also five other qualitative criteria: technical and practical feasibilities, ethical acceptability, information follow-up in time, and global impact on health education. Conclusions differ significantly from those of a pure cost-effectiveness analysis, but a multicriteria approach seems best suited to medical experts' preferences.
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PMID:Searching for consensus through multi-criteria decision analysis. Assessment of screening strategies for hemoglobinopathies in southeastern France. 222 58

Out of 104 patients with microcytosis (MCV less than 80 fl), 69% had an iron deficiency, 21% a chronic disease and 10% hemoglobinopathy or thalassemia trait. The absence of bone marrow iron stores or the response to iron supplementation were used to establish the diagnosis iron deficiency. On the basis of sensitivity (90%) and specificity (100%), the serum ferritin concentration is more suitable for assessment of iron deficiency than the serum iron concentration, the total iron-binding capacity or the percentual saturation of transferrin. The red cell distribution width (RDW) is the parameter with the highest sensitivity for iron deficiency (94%). An RDW value within the reference interval can be used to exclude iron deficiency in those cases in which the serum ferritin concentration does not accurately reflect the iron stores owing to severe tissue damage, as in inflammation or malignancy.
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PMID:Evaluation of microcytosis using serum ferritin and red blood cell distribution width. 231 92

The authors investigated the incidence of thalassemia traits and hemoglobinopathies in western Liguria, where up to 70% of people comes from other italian regions, particularly from the South. The authors screened 442 primary school pupils in Albenga and Andora (Savona). Laboratory investigations permitted to detect 19 thalassemia trait carrier subjects (4.30% of the total examined): 12 of them were diagnosed heterozygous for beta-thalassemia, 6 for alpha-thalassemia, and 1 for Hb S. Authors would underline that more than half of the screening positive subjects resulted carrier of beta-thalassemia or Hb S trait, both potentially able to give origin to severe diseases: homozygous beta-thalassemia, sickle cell anemia, and beta-thalassemia/Hb S double heterozygosity.
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PMID:[Epidemiologic research for thalassemia and hemoglobinopathy traits in the territory of a local health unit in Liguria]. 337 29

Will the development of safe, accurate prenatal diagnosis for Cooley's anemia result in a reduction in the unwanted birth of children with Cooley's anemia in the United States? Since detection of couples at risk only through the birth of an affected child will lead to a minimal reduction in the incidence of the disease, carrier screening will be necessary. A pilot project of prenatal hemoglobinopathy screening is being conducted in Rochester, New York, to answer the question "Should hemoglobinopathy carrier screening and genetic counseling of positives be part of routine prenatal care?" In the first 27 months of this study, 6,641 unselected pregnant women have been screened on the first prenatal visit, regardless of race and ethnic origin. Of these, 304 have been positive for some type of hemoglobinopathy. Of the 293 analyzed here, the proportion coming for counseling was 61% of the total group and 77% of the thalassemia trait subgroup. Of this number, the proportion wanting their mate tested was 98% of the total group and 100% of the thalassemia trait subgroup. The proportion of those counseled whose mate was actually tested was 60% for the total group and 70% for the thalassemia trait subgroup. The proportion of at risk couples wanting amniocentesis (mostly for detection of sickle cell disease) was 61%. We conclude that, when comprehensive hemoglobinopathy screening is incorporated into routine prenatal screening, the majority of positive women make an extra visit to receive an explanation, nearly all women coming for counseling want their mate tested, the majority of mates come for testing, and the majority of couples at risk want amniocentesis. Further, pregnant women with beta-thalassemia trait may be more inclined to act upon identification as a carrier than are positive women at large.
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PMID:Toward providing parents the option of avoiding the birth of the first child with Cooley's anemia: response to hemoglobinopathy screening and counseling during pregnancy. 386 Jan 40

The red blood cell distribution width index (RDW) was determined in a group of anemic male patients and normal male blood donors. Elevated mean RDW values were found in the anemic patients, with the highest value seen in sickle cell anemia, sickle cell-beta thalassemia, sickle cell trait, beta-thalassemia trait, and iron deficiency in decreasing order of magnitude. The mean RDW of the normal male subjects was 11.3. It was found that the RDW was proportional to the reticulocyte count, with the highest values in the patients with the highest reticulocyte count (sickle cell anemia). One clinical value of the RDW therefore may lie in its capacity for reflecting active erythropoiesis. For example, patients with normal or near-normal hemoglobin and with high RDWs may be suspected of having an elevated reticulocyte count that may indicate a hemoglobinopathy, such as sickle cell trait or thalassemia trait.
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PMID:Red blood cell distribution width index in some hematologic diseases. 396 61

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

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


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