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Cerebral infarction in sickle cell trait.

Sickle cell disease is known to predispose patients to the risk of cerebral infarction. However, only scattered reports exist of the neurological sequelae of the sickle cell trait. Only 8 cases are reported in the English literature, in some of which the sickle cell trait was not documented by hemoglobin electrophoresis. This report describes 2 men, age 35 and 24 years, who developed acute cerebral infarction. Investigation revealed no apparent cause for the lesion other than the sickle cell trait.

Adult

Gross hematuria in a patient with sickle cell trait.

Sickle cell trait must be included in the differential diagnosis of hematuria in black patients. Therefore, diagnostic workup should include hemoglobin electrophoresis, urine culture, coagulation studies, intravenous pyelography, cystoscopy, renal ultrasonography, and renal arteriography. If the patient is found to have hemoglobin AS and no other abnormality, initial therapy consists of bed rest and intravenous fluids, with transfusion of red cells if needed. Intravenous epsilon-aminocaproic acid (EACA) has been used effectively to reverse hematuria in patients who do not respond to conservative management. In the case reported here, gross hematuria in a 24-year-old black woman resolved with use of EACA therapy.

Adult

A rapid whole blood solubility test to differentiate the sickle-cell trait from sickle-cell anaemia.

A simple and rapid screening test which differentiates sickle-cell trait and sickle-cell anaemia is described. The test utilizes 0.1 ml of whole blood and is based on the low solubility of reduced sickle haemoglobin. Results intermediate between the sickle-cell trait and sickle-cell anaemia are obtained in unusual cases of sickle-cell anaemia with high foetal haemoglobin. The need to supplement the results with haematological and electrophoretic techniques is discusses.

Anemia, Sickle Cell

Renal acidification in sickle cell trait.

Nine sickle cell trait and nine control subjects underwent six-hour ammonium chloride acid loading. Maximal urine osmolality and renal hemodynamics were studied separately. Base line arterial pH, carbon dioxide pressure (Pco2), and [HCO3] were normal and comparable in the two groups. After ammonium chloride loading, urine pH decreased to 5.3 or less in all, and maximal excretion of ammonium and titratable and net acid was comparable as was urine minus blood Pco2 after bicarbonate loading. The ammonium chloride acidosis caused a small decrease in red blood cell 2,3-diphosphoglycerate levels but no alteration in oxygen pressure at 50% saturation at pH 7.4, sickling, or adverse effects. Control and sickle cell trait subjects had comparable renal hemodynamics but maximal urine osmolality was lower in sickle-cell trait subjects. Adults with sickle cell trait have diminished renal concentrating ability and normal renal acidification and hemodynamics.

Acidosis, Renal Tubular

A comparison of the physical and intellectual development of black children with and without sickle-cell trait.

Sickle-cell trait, a condition present in 7% to 9% of the United States Black population, is usually considered to be a clinically benign condition. However, there is increasing evidence to indicate the contrary, that is, the clinical pathophysiology is variable, ranging from a benign condition in most cases to a relatively few cases of severe pathological involvement. Physical and intellectual growth measures were taken on 19 children with sickle-cell trait (12 boys and 7 girls) from a large study of Black same-sex twin pairs from Philadelphia, Pennsylvania, and compared to measures taken of a sample of normal Black children from 155 monozygotic and dizygotic same-sex twin pairs. Sickle-cell trait carriers were found to weigh less, have smaller upper arm circumference lesser skinfold thickness, and showed less mature skeletal age, differing significantly from normal children. Sickle-cell carriers tended to score lower on four of five intellectual measures, scoring one fifth to one third of a standard deviation lower than normal children.

Adolescent

Effect of different modalities of exercise and recovery on exercise performance in subjects with sickle cell trait.

The sickle cell trait (HbAS) does not seem to affect exercise performance. It remains unclear, however, whether the capability to sustain repeated brief maximal effort and recovery by HbAS subjects, is also preserved. To study this, nine HbAS and nine matched controls underwent on two different occasions, a series of four, approximately 2-min duration, maximal cycle exercise tests separated by 20-min recovery periods of either absolute rest (P) or light pedaling (A) as well as an incremental test to exhaustion. In all tests, work performed, heart rate, blood hematocrit, lactate, and serum creatine kinase (CK), lactate dehydrogenase (LDH), and aspartate aminotransferase (GOT) were measured. Performances were similar in HbAS and HbAA subjects in both the predominantly anaerobic and aerobic exercise series. There were no observable differences in work, power, or heart rate in the two groups both during peak exercise or recovery periods. A significant hemoconcentration was observed during P, with hematocrit increasing in HbAS from 46.4 +/- 0.7% to 48.3 +/- 0.4% at the end of the last recovery period. Similar changes were seen in HbAA. Significantly greater fluid losses were found during A (1.3 +/- 0.2 l in A and 0.6 +/- 0.1 l in P for HbAS; P < 0.001), but fluid losses were similar in each type of recovery in the two groups. Despite similar performance, significantly lower blood lactate concentrations were consistently found in HbAS in each of the three exercise series (P < 0.001). Lower lactate levels in HbAS were observed only at exercise loads above the lactate threshold during the incremental test (P < 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult

Hemoglobin synthesis studies of a family with alpha-thalassemia trait and sickle cell trait.

The ratio of total globin alpha to beta chain synthesis was determined in reticulocytes isolated from the blood of the members of a black family, some of whom had sickle cell trait with low blood HbS concentrations (25-30%). The results support the hypothesis that sickle cell trait individuals with low HbS concentrations also carry a gene for alpha-thalassemia.

Anemia, Sickle Cell

Lung volumes and diffusion capacity in sickle cell trait.

Patients with sickle cell anemia have a restrictive ventilatory pattern, with reduction in diffusion capacity of the lung (DLco) and lung volumes. Diffusion capacity and lung volumes are reported as either normal or reduced in subjects with sickle cell trait. Thirteen subjects with sickle cell trait, age range 25 to 79 years, were compared with 13 normal subjects matched for age, sex, height, and smoking patterns. There was no significant difference in mean values of DLco or lung volume for the two groups. Neither was there a consistent difference for age-matched individuals. Normal lung function in sickle cell trait as opposed to sickle cell disease is probably related to the fact that the former have fewer, if any, pulmonary infectious and infarctive episodes.

Adult

On the protective mechanism of the sickle cell trait (HbAS).

The sickle cell trait has been reported to offer some protection against anaemia in pregnancy. Some attribute this to the break up of the cells which release iron for the synthesis of haemoglobin. The hypothesis presented here is that the 'partial' protective mechanism of the sickle cell trait is due to increased erythropoietic activity.

Anemia

Screening for sickle cell trait: the Veterans Administration National Sickle Cell Program.

Results of the Veterans Administration Sickle Cell Program for a period of 10 years are presented. We screened 370,250 patients; 404,341 attended educational sessions, and 38,347 had individual counseling sessions. Sickle cell trait was present in 6.4% of patients, and HbC trait was present in 1.8%. The clinically significant disorders HbSC disease, sickle cell anemia, and sickle beta thalassemia were present in 0.41% of individuals screened. A large number of uncommon variants were detected. The program enhanced the awareness of and the approach to evaluation of hemoglobinopathies.

Anemia, Sickle Cell

Optociliary shunts and sickle retinopathy in a woman with sickle cell trait.

We report a case of unilateral optociliary shunt vessels and sickle cell retinopathy in a patient with sickle cell trait. Sickle cell retinopathy has rarely been reported in patients with sickle cell trait hemoglobinopathy. To our knowledge, this is the first report of the association of sickle cell trait, unilateral sickle cell retinopathy, and ipsilateral optociliary shunt vessels.

Anemia, Sickle Cell

The effect of bicarbonate and distilled water on sickle cell trait hematuria and in vitro studies on the interaction of osmolality and pH on erythrocyte sickling in sickle cell trait.

The effect of intravenously administered distilled water was examined alone and during alkalization in a patient with gross hematuria associated with the sickle cell trait. On each of 4 occasions hematuria ceased promptly after the infusion of distilled water. Bicarbonate therapy also consistently decreased hematuria. In vitro studies on erythrocytes from another patient with sickle cell trait and hematuria demonstrated that slight increases in urinary pH similar to those that occur in the urine during alkalization can reverse or prevent erythrocyte sickling in the sicle cell trait. If patients with the sickle cell trait are hydrated adequately and have a good rate of urine flow distilled water can be given intravenously with virtually no danger of acute tubular necrosis secondary to erythrocyte hemolysis.

Adult

A new form of hereditary persistence of fetal hemoglobin in blacks and its association with sickle cell trait.

A new form of hereditary persistence of fetal hemoglobin (HPFH) producing 3%-8% Hb F in heterozygotes and an elevation of F-cell counts as measured by both the Kleihauer test and an antibody fluorescent procedure was found during the study of a black family. Individuals with this anomaly also had sickle cell trait. A sickle cell homozygote who had apparently inherited the HPFH determinant had 20.3% Hb F. Both types of gamma-chains were present in equal proportions in the Hb F of these individuals. A population study revealed other AS individuals with increased Hb F synthesis, three of whom were sibs. The presence of this previously unrecognized form of HPFH might explain the mild clinical manifestations and the hemoglobin phenotypes of sickle cell homozygotes with unusual elevations of Hb F.

Africa

Endothelial cell interactions with sickle cell, sickle trait, mechanically injured, and normal erythrocytes under controlled flow.

Increased adhesive forces between sickle erythrocytes and endothelial cells (EC) have been hypothesized to play a role in the initiation of vasoocclusion in sickle cell anemia. Erythrocyte/human umbilical vein EC interactions were studied under controlled flow conditions for normal (AA), homozygous sickle cell (SS), sickle cell trait (AS), mechanically injured normal, and "high-reticulocyte control" RBC by using video microscopy and digital image processing. The number of adherent RBC was determined at ten-minute intervals during a washout period. Results indicate that SS RBC were more adherent than AA RBC. Mechanically injured (sheared) AA RBC were also more adherent than control normal cells but less adherent than SS RBC. AS RBC did not differ significantly in their adhesive properties from normal RBC. Less-dense RBC were more adherent to EC than dense cells for normal, SS, and high-reticulocyte control RBC. The number of cells adherent at a given time during washout was a very strong function of wall shear rate. In addition, at all shear rates studied, the average velocity of individual SS RBC in the region near the EC surface was approximately half that of AA RBC at the same bulk volumetric flow rate through the flow chamber. These findings suggest that the increased adhesion of sickle RBC is at least partially related to the increased numbers of less-dense RBC present. Increased adherence of the less-dense cells to the EC lining vessel walls could contribute to microvascular occlusion by lengthening vascular transit times of other sickle cells.

Anemia, Sickle Cell