Molecular genetic studies in black families with sickle cell anemia and unusually high levels of fetal hemoglobin.

Clinical, hematologic, and molecular genetic studies are reported for five families with SS patients having unusually high fetal hemoglobin (Hb F) levels (mean 28.3%, range 19-42%). Some of the individuals were symptom-free and one was not anemic.

Newborn screening for hemoglobinopathies in Colorado. The first 10 years.

In Colorado, newborn screening for hemoglobinopathies by cellulose acetate and citrate agar electrophoresis of dried capillary blood spots was established in 1979. We reviewed the results of screening 528,711 infants through 1988. Forty-seven infants with sickle cell diseases and 27 infants with other hemoglobin diseases were identified.

Neutrophil dysfunctions in sickle cell disease.

The abnormal susceptibility towards certain infections in SCD patients has a partial explanation in the well described functional defects of the spleen and of the alternative complement pathway; such defects probably account for the etiology of fulminant, often fatal, childhood infections with encapsulated organisms (Streptococcus pneumoniae, Haemophilus influenzae). On the other hand, the frequent systemic infections with enteric organisms in SCD patients, particularly of the salmonella species, and also with Staphylococcus aureus, are more difficult to explain. We therefore reviewed the potential contribution of neutrophil (PMN) dysfunctions to the increased infective tendency of SCD patients and included some previously unpublished data from our laboratory.

Normal vitamin E status in sickle hemoglobinopathies in Colorado.

Because previous studies of serum or plasma vitamin E (E) levels reported a high prevalence of E deficiency in patients with sickle cell anemia (SCA), we studied the E status in 101 patients with SCA in Colorado using both levels of serum E and ratios of serum E to total lipid (E:L). Compared with age-, sex-, and race-matched controls, 1 of 70 patients with homozygous SCA (SS), 1 of 7 with sickle beta+-thalassemia, and 0 of 24 with hemoglobin SC disease had E deficiency according to E:L and all were E-sufficient based on serum E levels. Serum cholesterol levels, lower in SS patients than in control subjects, correlated more strongly with serum E levels than did total serum lipid levels in control subjects and SS patients; hence, the ratio of serum E to cholesterol may be a useful indicator of E status in these patients.

Gallbladder function is altered in sickle hemoglobinopathy.

Despite comparable rates of hemolysis, only 50% of patients with sickle hemoglobinopathy (SH) develop pigment gallstones by age 20 yr. Thus, pathogenetic factors, other than hemolysis, may contribute to gallstone formation. In the present study we determined whether gallbladder function, measured by real-time ultrasonography or bile acid metabolism, determined by isotope dilution-mass spectrometry, were altered in adolescents and young adults with SH.