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

Thalassemia presents individual, social and economic burdens: a key question is whether medical and economic viewpoints converge or not. Using precise molecular probes, prenatal diagnosis of the various thalassemia genotypes is available in the case of parents who are known carriers, so identified because of a previous affected child or a positive family genetic history. However, the ideal option of prevention of the birth of a first affected child requires community screening. The only practical approach thereto is prenatal screening of women in early pregnancy at ante-natal clinics (ANC). The initial steps (OF, DCIP) are simple, cheap and easily coupled with standard prenatal procedures. In the second phase, spouse screening, compliance is suboptimal and involves non-routine opportunity costs. Subsequent steps (secondary screening of positive pairs, genotyping of positives, and fetal diagnosis [PND]) represent greater costs to provider and consumer, and, as they are relatively expensive, reduced compliance at each step if the major part of the economic burden (direct and indirect costs) is to be borne by the consumer. Thus, only a proportion of cases is likely to face the final decision to terminate pregnancy or not. Some broad estimates of costs of each phase (ANC-->PND) have been made for comparison with the estimated costs of case management of the several thalassemia disease classes for their projected lifetimes, while several more detailed studies are in progress to fine tune the real costs (direct and indirect) of diagnosis. In a purely economic sense the situation presents opportunity to consider trade-offs between PND and disease case management, in terms of benefit:cost ratio. Viewed from a health systems vantage point this ratio depends substantially on compliance, as the system must consider the cost of caring for all thalassemia cases, including those births which could have been avoided by optimal compliance. In ideal circumstances the rough estimates indicate a probable benefit:cost ratio > 1, supporting the notion of community-based screening. Such a result, however, compares procedures in a short, finite time frame (diagnosis) with a less predictable, longer life-time (case management), requiring bureaucratic flexibility (if the public provider is to pay) or family emotional/fiscal investment (if the consumer is to pay) or both (cost-sharing): either way there is an inescapable element of long term investment planning that requires squaring off of the emotional, social and fiscal ingredients in the equation. In this sense the thalassemia syndromes represent an example of decision-making pathways involved in assessing and handling chronic disease burdens at family, community and national levels: at the latter level regional incidence varies considerably, a geopolitical factor which may require differential demographic planning.
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PMID:Screening for thalassemia: an economics viewpoint. 964 Jun 4

The present study aimed to screen thalassemia and hemoglobinopathy in Baan Na-Ngam, Chachoengsao Province, Thailand. Blood samples were obtained from 266 volunteers; 105 males and 161 females aged 7 to 49 years. Blood samples screened for thalassemia combining the OF and modified DCIP precipitation tests. CBC, RBC indices, hemoglobin typing, HbA2 and Hb E were determined. Combined OF and DCIP tests found that in normal subjects, 128 out of 155 were negative for both, 3 were -/+ pattern, 22 were +/- pattern and 2 was positive for both. Interestingly, one sample showed an abnormal hemoglobin pattern, which could not be determined by automated LPLC. Three beta-thalassemia trait subjects were positive for only the OF test. For the Hb E trait, 57 out of 94 were -/+ pattern; 37 were positive for both tests. Moreover, 14 homozygous Hb E subjects were positive for both tests. The prevalence of beta-thalassemia trait was 1.1%, Hb E trait was 35.3% and homozygous Hb E was 5.3%. Since DNA analysis was not performed, alpha-thalassemia1 and alpha-thalassemia2 traits cannot be excluded. In conclusion, a combination of the OF and DCIP tests is suitable for preliminary screening for thalassemia and hemoglobinopathy. However, RBC parameters, hemoglobin typing and PCR analysis will provide more specific diagnosis, especially in alpha-thalassemias.
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PMID:Screening for thalassemia and hemoglobinopathy in a rural area of Thailand: a preliminary study. 1686 74

Hb E-beta thalassemia is a major public health problem in West Bengal, India and is the predominant symptom producing thalassemia in this part of the country. To search for an easy, reliable and cost effective screening method for HbE that can be used at the community level where more sophisticated methods are not readily available. And the DCIP test was performed for the purpose. Blood samples of 425 asymptomatic family members from 80 diagnosed cases of HbE beta Thalassemia patients were tested for Hb, RBC indices, DCIP test, HPLC, and in discordant cases confirmed by DNA mutation analysis. The present study shows DCIP screening test to have a sensitivity, specificity, positive predictive value and negative predictive value of 96.39%, 97.43%, 96.39% and 97.43% respectively. It also shows a false positive rate and false negative rate in 2.56% and 4.6% cases respectively. The advantage with DCIP over HPLC is that it can be easily performed at the community level by a person with minimum technical skill, few samples (even a single sample) can be tested at time, at a low cost.
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PMID:Efficacy of Dichlorophenolindophenol (DCIP) as Screening Test for Hb E: Revisited. 3264 29