Coping strategies in families of children with sickle cell disease.

OBJECTIVE: To examine the impact of family environment, morbidity, and socioeconomic status (SES) on coping strategies in families of children with sickle cell disease. DESIGN: A cross-sectional study. METHODS: The study sample consisted of 40 mothers, 24 fathers, 40 patients, and 28 healthy siblings from 40 African-American families, each of which had only one child with sickle cell disease. Data were collected through the use of structured interviews utilizing a demographic questionnaire, the Family Environment Scale (FES), and the COPE. RESULTS: The results indicate that support-seeking coping strategies were employed more often by mothers in more cohesive families and siblings in less cohesive families, while increased growth (resilience) was experienced by siblings in less conflicted families. Patients in more religious families reported greater use of religion as a means of coping. Mothers of mildly affected patients used acceptance more frequently than those of severely affected patients, and fathers of severely affected patients more often sought emotional support. Mothers, fathers, and siblings in low SES families reported greater use of denial than did those in high SES families. CONCLUSION: Additional psychosocial research involving families (including fathers and siblings) dealing with sickle cell disease is needed to facilitate the utilization of adaptive coping strategies, thereby enhancing individual and family adjustment.

Revisiting foundations of autonomy and beneficence in genetic counseling.

Respect for autonomy of clients and helping clients to achieve the good they desire are now recurring themes in genetic counseling literature. In professional discourses on the clinical encounter involving genetic counseling these ideas are frequently employed in a manner which suggests that a client enters the conversation lacking only some technical information needed to make a decision. However, decision-making autonomy is developed and sustained over a lifetime through dependencies on social partners; including with the genetic professional. In an operational sense autonomy is reflected in the capacity of a client to do informed analytical work, to engage in reality testing of alternative decisions, and to do moral testing of decisions. The counselor's role can extend to assisting the client in developing the skills needed for the tasks of moral deliberation. This work develops a theoretical framework for conceptualizing autonomy of clients and the resulting relationship between counselor and client. This framework is more foundational than current debates about the relative merits of directive versus nondirective counseling, and points toward a relationship between counselor and client which differs from that implied by either of these two traditional relational paradigms.

Theoretical aspects of AIDS in children.

It is estimated that world-wide approximately 13 million adults and at least 1 million children already have the HIV virus. Projections call for another twenty or thirty million new infections in the 1990s. Stresses that generally accompany chronic illnesses have been well identified. Also well known are the unique series of concerns that adult AIDS patients and their caretakers experience. Of children who are born to HIV infected mothers, the prevalent mode of transmission of the HIV infection, 30 per cent have been found to be infected and of these approximately 12-15 per cent will develop AIDS. This paper focuses on children at risk in urban environments, where other social problems such as poverty and drug use complicate the picture. It reviews psycho-social issues associated with AIDS, such as, knowledge and "disclosure" of infection status, problems of healthy siblings, "kinship care", problems of professionals engaged with this population, etc. Ethical guidelines as well as recommendations for policy and services are also presented which can protect and assist affected children and their families, and the professionals working with them. For children, there is a unique inter-connectedness, medical, developmental and psychasocial needs at all ages, that has to be taken into account as the illness modifies developmental progress and creates an altered social milieu.

Resilience in siblings of children with sickle cell disease.

This pilot study was conducted to identify factors responsible for promoting resilience in siblings of children with sickle cell disease. Twenty siblings (10-17 years of age) of children (5-13 years) with sickle cell disease were selected from the Pediatric Clinic of Howard University Center for Sickle Cell Disease. The siblings responded to questionnaires, and the data obtained was analyzed by chi-square for association. The results indicated that age, birth order, and gender had no effect on resilience in the siblings. However, family size, number of parents in the home, sibling's knowledge of the illness, degree of morbidity of the illness, socioeconomic status of the family, and parents' attitudes and childrearing practices were all found to affect resilience. These findings provide additional insight into the psychosocial aspects of, and genetic counseling for sickle cell disease, as well as for other chronic genetic disorders.

Sirenomelia accompanying exposure of the embryo to cocaine.

We have reported two cases of sirenomelia sequence associated with a history of cocaine exposure during a major part or the entire extent of the first trimester of pregnancy. The two infants were delivered during a 2 1/2-year interval in a newborn population in which prenatal cocaine exposure rose to an estimated 25%. The incidence of sirenomelia in this population was 18-fold higher than previously reported. The potential relationship between sirenomelia and cocaine exposure during the first month of pregnancy warrants further investigation.

Prenatal screening for neural tube defects: perceptions of potential recipients.

The interpretation of prenatal screening and follow-up diagnostic testing for neural tube defects is relatively complex and presents unusual demands in terms of informed utilization by pregnant women. Such demands could impact differentially on individuals of different socioeconomic status or cultural values. Accordingly, a two-part questionnaire, interrupted by presentation of educational material on neural tube defects and prenatal screening, was presented to female sophomore medical students and to reproductive-age women whose children were served at Howard University Hospital. Student subjects favored prenatal testing, whereas clinic subjects were divided on testing both before and after reading the educational material. Both groups anticipated prenatal screening in future pregnancies, but clinic subjects were ambiguous about the need for diagnostic follow-up after the determination of high maternal serum alpha-fetoprotein. Clinic subjects were more hesitant than students to employ abortion as a means of intervention and did not distinguish between spina bifida and anencephaly in this regard.

Enrichment of dystrophy-associated antigen from erythrocyte membranes of mice with muscular dystrophy.

In a previous report, it was shown that erythrocyte membranes from mice with muscular dystrophy of strain 129/ReJ-dy manifest a unique antigen. In the current study, this antigen was enriched from solubilized membranes by a two-step solid phase immunoadsorbent. The enriched fraction retained antigenicity as well as a reduced set of electrophoretic forms of protein over that seen in solubilized membranes. The enriched fraction contained no novel molecular weight species but several were noticeably enriched, particularly at 54,000 daltons.

Distributions of hemoglobins A and S among erythrocytes of heterozygotes.

The recently developed capability to separate and quantify each of several proteins concurrently in single red cells presents an opportunity to test for biological variations in intercellular distribution of a protein as well as the extent of correlation between quantities of gene products derived from a single cell genome. In this preliminary study, erythrocytes from 30 sickle trait subjects were subjected to single cell electrophoresis and the resulting hemoglobin electropherograms were scanned by a recording densitometer. There was found to be heterogeneity among subjects in the form of the intercellular distribution of Hb S fraction, as tested by g statistics for skewness and kurtosis. Additionally, in all subjects there was statistically significant correlation between relative quantities of cellular Hb A and Hb S as measured concurrently in the same cell. These observations provide a basis for future research on the hypothesis that the form of the distribution of hemoglobin among erythrocytes is a heritable variable.

An erythrocyte membrane antigen associated with X-linked muscular dystrophy.

Goat antiserum was prepared against erythrocyte membranes obtained from a man who had X-linked muscular dystrophy. When cross-adsorbed with control membranes and tested on double immunodiffusion plates or by binding to intact erythrocytes suspended in thin-layer agar plates, this antiserum discriminated between membranes from phenotypically normal controls and dystrophic men, and between controls and obligate female dystrophy carriers. It also identified two populations among a small sample of women at risk for being dystrophy carriers.

Sickle Lepore hemoglobin identified in a black American infant.

An integrated newborn infant screening, follow-up testing, and counseling service for hemoglobinopathies creates opportunity for early medical management of disease processes, assistance to parents in developing coping strategies, and educational counseling about recurrence risks in subsequent pregnancies. These objectives were operative in a case of sickle Lepore hemoglobin identified through a newborn infant screening service. The initial screening test was reported as Hb AS. Follow-up electrophoresis on cellulose acetate was compatible with Hb SS, but in citrate acid agar gel there were major and minor zones of S and A mobility, respectively. This and other hematologic parameters in both the child and his father were compatible with a sickle Lepore phenotype. This was supported by a tryptic peptide map of the purified variant hemoglobin from the father. Without a follow-up testing and counseling service, this case would probably have been missed until manifestation of clinical phenotype.

Relative proportions of human hemoglobins A, S, C in individual erythrocytes of heterozygotes.

Inherited electrophoretic variants of hemoglobin in individual erythrocytes were separated by electrophoresis in ultrathin acid agar gels. The electropherograms were stained under a hood with hemoglobin specific chromogen, benzidine. Photomicrographs of the electropherograms were scanned with a recording densitometer. Relative quantities of the respective hemoglobins in individual erythrocytes were estimated by weighing the areas under the densitograph curves. The findings confirm that the intracellular proportions of Hb A and Hb S or Hb A and Hb C in heterozygotes are of heterogeneous distributions within a given population of cells. The tool of single cell electrophoresis may be useful for investigating relative quantities of other electrophoretically separable protein variants in individual erythrocytes.

Heritable variation in erythrocyte membranes of mice with muscular dystrophy.

Several physical and chemical characteristics of erythrocyte membranes from dystrophic mice differ from those of controls. In this study it is postulated that there is a heritable antigenic characteristic in erythrocyte membranes of dystrophic mice that is associated with muscular dystrophy. Accordingly, antisera were prepared in goats against erythrocyte membranes from dystrophic mice. These antisera discriminated between membranes from control mice and membranes from three different strains of dystrophic mice. Preliminary data on carrier detection are consistent with the hypothesis that the antigen is manifest in membranes of carriers.

Sickle cell disease in childhood. Strategies for early diagnosis.

Early diagnosis of hemoglobin diseases means the identification of a molecular phenotype at a stage when there is opportunity to prevent, minimize, or more adequately adapt to an anticipated health burden. Such diagnosis is presently possible in early childhood, in the neonatal stage, and in fetal stage. A benefit of early diagnosis at all of these stages is the provision of additional options to parents for making informed decisions regarding prevention or for coping with the anticipated hemoglobin disease.

Prevalence of alpha-chain variants at birth.

Hemoglobin electrophoresis of cord blood from 4,499 newborns was performed as part of a sickle cell disease detection program. Although the expected frequency of the genes for hemoglobins S and C were observed, six newborns (five kindreds) were heterozygous for an alpha G Hb. In four kindreds, the alpha chain variant was identified as Hb G-Philadelphia. In each case, heterozygosity for this Hb was manifested at birth by the presence of Hb F/G (alpha 2 G gamma 2), a slow Hb migrating between the positions of Hbs S and C on cellulose acetate. In some newborns, Hb G (alpha 2 G beta 2) was also detectable, so that these cord bloods had four hemoglobin components: F, F/G, A, and G. The prevalence of Hb G-Philadelphia in this population sample is higher than that usually reported for black Americans and may represent a founder effect. Comprehensive screening of cord blood hemoglobins should use electrophoresis on alkaline media as the primary testing procedure because it allows recognition of most variants, such as the D (G) hemoglobins. Reliable identification of Hbs S and C requires citrate agar electrophoresis as a confirmatory test.

Chromatographic fractionation of anti-sickling agents in Fagara xanthoxyloides.

Fractionation of an aqueous extract of root bark from Fagara xanthoxyloides by column chromatography on DEAE-A-50, utilizing an elution gradient of pH 7.5-5.0, yielded five fractions. All fractions reversed metabisulfite-induced sickling in vitro of erythrocytes homozygous for hemoglobin S. Only the fraction containing the least anti-sickling activity also contained alkaloids. Thin-layer chromatography on silica gel and aluminum oxide revealed further molecular heterogeneity within two of the fractions.