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Screening for sickle-cell trait in the emergency department.

OBJECTIVE: To determine 1) whether young adult black patients in an emergency department (ED) are familiar with sickle-cell anemia and 2) how many of these patients know their own sickle-cell trait status. DESIGN: Black patients in an ED were interviewed. Women aged 18 to 40 years and men aged 18 to 50 were included. Sickle-cell screening was offered to the patients. SETTING: The ED of a large urban university hospital with an annual census of 50,000, approximately 25% of whom are black. PATIENTS: A convenience sample of 147 black patients presenting to the ED with minor medical conditions. INTERVENTIONS: The subjects were interviewed to determine their knowledge base regarding sickle-cell anemia and to determine how many knew their sickle-cell trait status. The subjects were tested for sickle-cell trait. MEASUREMENTS AND MAIN RESULTS: 98% of the patients had heard of sickle-cell anemia and 73% knew that it was a genetic disorder. Only 31% of the patients knew their sickle-cell status. Women were more likely than men to know their status. Approximately half of the patients who had family histories of the trait or the disease knew their own status. Two of the 47 patients (4%) tested had positive sickle-cell screen results. CONCLUSIONS: Most black patients of childbearing age presenting to the ED have heard of sickle-cell anemia and know that it runs in families, but few know their own trait status. Until access to primary care providers is improved, ED physicians who care for patients at risk for sickle-cell trait have an obligation to ask them about prior screening and either screen them or refer them for screening.

Adult↗

Anterior segment ischemia: a complication of retinal detachment repair in a patient with sickle cell trait.

Anterior segment ischemia (ASI) is a dreaded complication of retinal detachment surgery particularly in patients with predisposing factors such as sickle cell disease. We report a case of ASI after scleral buckling in an otherwise healthy black patient with sickle cell trait. Conditions of relative hypoxia intraoperatively from either anesthesia or surgical manipulation may precipitate vasoocclusive phenomena in these normally asymptomatic patients. Since the incidence of sickle cell trait in the black population in the United States is 8.5%, we recommend these patients have a preoperative sickle test followed by hemoglobin electrophoresis with quantification if positive. The presence of sickle cell trait should alert the surgeon to the risk of ASI, and factors predisposing to hypoxia should be minimized when possible.

Anterior Eye Segment↗

Case report: sickle cell trait and recurrent deep venous thrombosis.

Thromboembolic events are unusual in patients with sickle cell trait, particularly in the absence of hypoxic stresses. A young black man with multiple episodes of lower extremity deep venous thrombosis, the first of which occurred when he was 18 years old, is reported. The only identifiable risk factor for recurrent venous thrombosis was the presence of sickle cell trait.

Adult↗

Is sickle cell trait a health hazard? Medical problems: a brief review.

Investigators have statistically linked the occurrence of certain conditions to sickle cell trait (hemoglobin AS). Other associations between hemoglobin AS and morbid conditions have been reported with reliable documentation, although these reports have lacked a statistical base. The need for continued, careful, and clear documentation of such associations is emphasized because physicians caring for patients with sickle cell trait will continue to question such associations. An approach to counseling patients with sickle cell trait is suggested.

Anemia, Sickle Cell↗

Percentage of HbS among cases of sickle-cell trait in Basra, Iraq.

The proportion of sickle haemoglobin (HbS) was determined in 170 sickle-cell-trait individuals; 75 (44.1%) individuals had HbS% > 38%, 54 (31.8%) had HbS% between 31% and 38% and 41 (24.1%) had HbS% < 31%. There was positive correlation between HbS% and haemoglobin concentration, packed cell volume, mean corpuscular haemoglobin, mean corpuscular volume and target cell percentage. Multiple regression analysis indicated that measurement of haemoglobin concentration, mean corpuscular haemoglobin and target cell percentage could be used to predict the HbS%.

Adolescent↗

Splenic syndrome at mountain altitudes in sickle cell trait. Its occurrence in nonblack persons.

Six consecutive cases of splenic syndrome at mountain altitudes in persons with sickle cell trait are reported and the literature is reviewed. All six cases occurred in men who experienced the acute onset of severe left-upper-quadrant abdominal pain within 48 hours of arrival in Colorado from lower altitudes. All six patients were phenotypically nonblack. Three patients experienced their symptoms at moderate altitudes of 1,609 to 2,134 m (5,280 to 7,000 ft) above sea level. All recovered with medical management and none required splenectomy, although functional hyposplenia was a sequela in at least one patient. The possibility that nonblack persons with sickle cell trait may be at greater risk than black persons with sickle cell trait for the development of splenic syndrome at moderate altitude is discussed.

Adolescent↗

Abnormal haemoglobins in the Sudan savanna of Nigeria. I. Prevalence of haemoglobins and relationships between sickle cell trait, malaria and survival.

The prevalence of different haemoglobins and their interaction with malaria have been studied in Garki, Kano State, Nigeria. Sickle cell trait was present in 24% of newborn and 29% of those aged over five years. Hb.AC was present in 0.7%. Frequency of both haemoglobin variants was greater in Hausa than Fulani. Sickle cell anaemia was almost invariably fatal in early childhood. The distribution curve of percentage of Hb.S in sickle cell trait subjects was normal, and did not demonstrate any high frequency of a gene for alpha-thalassaemia. The presence of beta-thalassaemia minor could not be tested, but Hb.S/beta-thalassaemia was not detected. Hb.S gene frequency appears to have been maintained by a fitness in heterozygotes of 21% over normal homozygotes; increased fertility and high mutation rate did not make any apparent contribution. Hb.AS subjects had on average lower frequency and considerably lower densities of Plasmodium falciparum trophozoites than Hb.AA from the age of 30 to 59 weeks; density was less in sickle cell trait up to age three years in the dry season only. It is suggested that the survival advantage and hence the prevalence of sickle cell trait may be greatest in some hyperendemic areas and less where malaria transmission is extremely high or when it is high and unvaried.

Adolescent↗

Traumatic central retinal artery occlusion with sickle cell trait.

An 8-year-old black boy with sickle cell trait struck his left brow and globe on the edge of a table and had immediate blurring of vision. Six days later visual acuity was light projection, and traumatic iritis with secondary glaucoma and perimacular edema were present. Fluorescein angiography indicated obstructed peripheral and perimacular arterioles and dye leakage from the disk.

Anemia, Sickle Cell↗

Cilioretinal artery occlusion in sickle cell trait and rheumatoid arthritis.

BACKGROUND: Although once thought to be a benign condition, retinal vascular occlusive disease and proliferative retinopathy can occur with sickle cell trait (hemoglobin AS) when additional systemic diseases or trauma are present. METHODS: The authors discuss the ophthalmologic evaluation and clinical course of a 49-year-old woman with sickle cell trait and rheumatoid arthritis who presented with a cilioretinal artery occlusion. RESULTS: The patient's laboratory evaluation showed both a high rheumatoid factor titer and a mild hypergammaglobulinemia, causing increased serum viscosity. The high level of sickle hemoglobin-42.3% (range in trait, 22%-46%)-increased serum viscosity, and lower cilioretinal artery perfusion pressure relative to the central retinal artery resulted in cilioretinal artery occlusion. CONCLUSIONS: Isolated cilioretinal artery occlusions carry a good prognosis, and this patient recovered 20/20 visual acuity in the affected eye. The association between sickle cell trait and rheumatoid arthritis resulting in retinal vascular occlusive disease has not been reported previously. The presence of retinal vascular occlusion in sickle cell trait necessitates a medical evaluation for additional systemic diseases.

Arthritis, Rheumatoid↗

Sickle cell trait in Ivory Coast athletic champions, 1956-1989.

Thirteen sickle cell trait carriers (SCTC) were found among 129 Ivory Coast champions or record holders in races for the period from 1956 to 1989 (10.1%). These 13 SCTC won 33 titles and national records (7.0%): 32 (12.5%) in races of 400 m or less and only one (0.004%) in races of 800 m or more, and the highest-performing SCTC won 8 titles and national records. A comparison with non-SCTC Ivory Coast champions shows that SCTC won significantly fewer titles than non-SCTC in long-distance races and that they won fewer titles during their careers.

Black People↗

Maternal death associated with sickle cell trait.

A case report is presented of a patient with sickle cell trait who died an abrupt intrapartum death precipitated by probable peripartal cardiomopathy and apparently aggravated by intravascular sickling. Notable autopsy findings included massive sicklemia in all organ systems.

Adolescent↗

Pulmonary infarction in sickle cell trait.

A young black man presented with unexplained pleuritic chest pain. A hematologic evaluation revealed sickle cell trait, Chest roentgenograms, ventilation/perfusion lung scanning and a pleural-parenchymal lung biopsy documented pulmonary infarction. Sickle cell trait with resultant pulmonary infarction should be considered in black subjects with unexplained pulmonary diseases.

Adult↗

ECG in sickle cell trait at rest and during exercise and hypoxia.

The electrocardiograms of 28 volunteers with sickle cell trait were compared to those of 28 control subjects. Tracings were recorded at rest, at peak exercise, at simulated sea level, and at a simulated altitude of 4,000 m. No differences between the subjects with sickle cell trait and control subjects were observed for the majority of electrocardiographic measurements. Several measurements had statistically significant differences that persisted after correcting for body surface area and physical fitness. The magnitude of the differences does not appear to have physiologic or clinical significance. The observation that the differences were greatest for resting and sea level recordings indicates that sickling is probably not responsible. Further investigation will be needed to substantiate these differences and determine whether these electrical observations have any physiologic implication.

Adolescent↗

Effect of maternal sickle-cell trait on perinatal mortality.

Possession of the sickle-cell trait (Hb AS) by the African mother has been shown to be associated with a significant increase in perinatal mortality when there is anoxic stress. This observation should be taken into consideration in the management of labour of both the indigenous and immigrant mothers at risk. The findings do not influence the proposed explanations for the maintenance of high frequencies of the haemoglobin S gene in areas of endemic malaria.

Anemia, Sickle Cell↗

Malignant fibrous histiocytoma arising within a bone infarct in a patient with sickle cell trait.

Sarcoma associated with osteonecrosis or bone infarction is a rare but well-documented pathological event. In this report, a 69-year-old man with sickle cell trait presented with malignant fibrous histiocytoma (MFH) in his distal tibia. The resected tumor was found in association with a large medullary infarct that extended 10 cm proximal from the tumor site. Bone infarcts can be caused by a number of processes including corticosteroid overuse, alcoholism, dysbarism, and hemoglobinopathies such as sickle cell disease. Patients with sickle cell anemia often develop osteonecrosis, but osteonecrosis has also been reported in people with sickle cell trait, albeit much more rarely. Our patient is only the third reported case of infarct-related bone sarcoma in a patient with sickle cell trait. Bone infarction may be a rare though serious consequence of sickle cell trait.

Aged↗

Prolonged survival of a patient with sickle cell trait and metastatic renal medullary carcinoma.

PURPOSE: The treatment and outcome of a patient with sickle cell trait and metastatic renal medullary carcinoma is described. PATIENT AND METHODS: A 12-year-old boy with sickle cell trait had metastatic renal medullary carcinoma. After surgical resection of the primary tumor, he received chemotherapy with methotrexate, vinblastine, doxorubicin, and cisplatin. The carcinoma progressed after a 6-month period of stable disease. At that time, he received chemotherapy including ifosfamide, etoposide, carboplatin, and topotecan. RESULTS: The patient died of progressive disease 15 months from diagnosis. The patient's tumor in this report showed no progression while he was receiving methotrexate, vinblastine, doxorubicin, and cisplatin, but eventually became refractory to these and other cytotoxic agents. CONCLUSION: Renal medullary carcinoma is a highly chemotherapy-resistant tumor. Average survival after diagnosis is 15 weeks; the longest survival reported in the literature is 12 months from diagnosis. The patient in this report survived longer than the previously described patients before dying from progressive disease.

Carcinoma, Medullary↗

Importation route of the sickle cell trait into Portugal: contribution of molecular epidemiology.

To elucidate the origin and spread of the sickle cell trait into the Portuguese population, we examined nine polymorphic DNA markers within the beta globin gene cluster defining the haplotype. The population sample included 64 sickle-cell-gene-bearing individuals from defined Portuguese-speaking white, black, and Asian Indian populations. The nature and geographic distribution of the different beta S haplotypes in Portugal suggest that the sickle cell trait has been imported twice: between the eighth and the thirteenth centuries from the Mediterranean basin (in association with the Benin haplotype) and after the fifteenth century from black Africa over an Atlantic route (Senegal and Bantu haplotypes).

Genetics, Population↗

Serum lipids, ABO blood group and sickle cell trait.

One hundred apparently healthy individuals were used in this study. 71% of these had normal haemoglobin (HbAA) while 29% had sickle cell trait (HbAS). Serum cholesterol and phospholipids were investigated. The mean lipid and lipoprotein concentrations (cholesterol, high density lipoprotein cholesterol and phospholipid) were higher in the sickle cell trait than in the subjects with normal haemoglobin. When separated into blood groups, 24% belonged to the type A+, 11% to the type B+, 2% to the type AB+ and 63% to the type O+. In relation to sexes, a greater percentage of female population had higher lipid levels then the men, and this was consistent even in the sickle cell trait.

ABO Blood-Group System↗