The Genetics of Sickle Cell Anemia and Related Syndromes

Rucknagel, Donald L.

doi:10.1001/archinte.1974.00320160089008

Cited by 34 publications

(4 citation statements)

References 67 publications

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“…The few adaptations successfully analyzed from the genotypic, through the phenotypic, to the environmental level are, in general, traits under simple genetic control. In some cases the molecular basis of the adaptation is known, e.g., sickle-cell trait in humans (3,4) or DDT resistance in house flies (5). In other instances the molecular picture remains incomplete although, as in the industrial melanism of Biston betularia (6), a causal connection between specific genotypes and environmentally significant phenotypes may be unambiguously established.…”

mentioning

confidence: 99%

Adaptive response due to changes in gene regulation: a study with Drosophila.

McDonald¹,

Chambers²,

David³

et al. 1977

Proc. Natl. Acad. Sci. U.S.A.

133

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In spite of the critical role of the process of adaptation in evolution, there are few detailed studies of the genotypic and molecular basis of the process. Drosophila melanogaster flies selected for increased tolerance to ethanol exhibited higher levels of alcohol dehydrogenase (alcohol:NAD+ oxidoreductase; EC 1.1.1.1) activity than unselected controls. A series of tests (electrophoresis, product inhibition, temperature stability, pH optima, substrate specificity, and Michaelis constants) gave no evidence of structural differences in the enzyme of the selected and the control flies. However, quantitative immunological assays showed that the selected flies contained significantly higher amounts of alcohol dehydrogenase. Adaptation of the selected flies to higher alcohol tolerance has most likely taken place by changes not in the structural gene locus coding for the enzyme, but by regulatory changes affecting the amount of gene product.

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mentioning

confidence: 99%

Adaptive response due to changes in gene regulation: a study with Drosophila.

McDonald¹,

Chambers²,

David³

et al. 1977

Proc. Natl. Acad. Sci. U.S.A.

133

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“…This hypothesis is supported by the fact that amongst the negroes in the United States the incidence of sickle cell disease has shown a fall, compared to that amongst the African population in their native land. The average incidence of sickle cell gene in Africa is 20%, 3 whereas the incidence of sickle cell trait in American negroes is 8% 4 . The fall in incidence of sickle cell gene in American negroes and its more uniform distribution is attributed to the fact that they have by now acquired about 20% Caucasian ancestry 5 …”

Section: Discussionmentioning

confidence: 99%

“…The averafe incidence of sickle cell gene in Africa is 20%, whereas the incidence of sickle cell trait in American negroes is 8%. 4 The fall in incidence of sickle cell gene in American negroes and its more uniform distribution is attributed to the fact that they have by now acquired about 20% Caucasian ancestry. 5 Furthermore, in our study and in the two other unpublished studies from Karachi, most of the cases have sickle cell disease, which shows that sickle cell trait must be relatively common and escapes detection because it does not have a characteristic presentation.?…”

Section: Discussionmentioning

confidence: 99%

Sickle cell anaemia in Pakistan

Kazmi

Rab

1990

Int J Clinical Practice

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“…The relationship between coping and SCD management has been studied since the 1970s [ 3 , 4 ]. Some patients face frequent episodes of pain, leading to hospitalizations and narcotic analgesia use, whereas others only have occasional pain crises [ 5 ]. Individuals with SCD differ in their abilities to cope with disease-related pain [ 6 , 7 ].…”

Section: Introductionmentioning

confidence: 99%

An assessment of the psychometric properties of the Coping Strategies Questionnaire – Sickle Cell Disease (CSQ-SCD) among adults in the United States

Salkar,

Rosenthal,

Bhattacharya

et al. 2024

Health Qual Life Outcomes

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Background Previous studies have reported conflicting factor structures of the Coping Strategies Questionnaire - Sickle Cell Disease (CSQ-SCD). This study examined the psychometric properties of the CSQ-SCD among adults with SCD in the United States. Methods This study implemented a cross-sectional study design with web-based self-administered surveys. Individuals with SCD were recruited via an online panel. Psychometric properties, including factorial and construct validity, and internal consistency reliability, of the CSQ-SCD were assessed. Results A total of 196 adults with SCD completed the survey. Confirmatory factor analysis (CFA), using maximum likelihood estimation and the 13 subscale scores as factor indicators, supported a three-factor model for the CSQ-SCD compared to a two-factor model. Model fit statistics for the three-factor model were: Chi-square [df] = 227.084 [62]; CFI = 0.817; TLI = 0.770; RMSEA [90% CI] = 0.117 [0.101–0.133]; SRMR = 0.096. All standardized factor loadings (except for the subscales isolation, resting, taking fluids, and praying and hoping) were > 0.5 and statistically significant, indicating evidence of convergent validity. Correlations between all subscales (except praying and hoping) were lower than hypothesized; however, model testing revealed that the three latent factors, active coping, affective coping, and passive adherence coping were not perfectly correlated, suggesting discriminant validity. Internal consistency reliabilities for the active coping factor (α = 0.803) and affective coping factor (α = 0.787) were satisfactory, however, reliability was inadequate for the passive adherence coping factor (α = 0.531). Given this overall pattern of results, a follow-up exploratory factor analysis (EFA) was also conducted. The new factor structure extracted by EFA supported a three-factor structure (based on the results of a parallel analysis), wherein the subscale of praying and hoping loaded on the active coping factor. Conclusions Overall, the CSQ-SCD was found to have less than adequate psychometric validity in our sample of adults with SCD. These results provide clarification around the conflicting factor structure results reported in the literature and demonstrate a need for the future development of a SCD specific coping instrument.

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The Genetics of Sickle Cell Anemia and Related Syndromes

Cited by 34 publications

References 67 publications

Adaptive response due to changes in gene regulation: a study with Drosophila.

Adaptive response due to changes in gene regulation: a study with Drosophila.

Sickle cell anaemia in Pakistan

An assessment of the psychometric properties of the Coping Strategies Questionnaire – Sickle Cell Disease (CSQ-SCD) among adults in the United States

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