Stroke in a cohort of patients with homozygous sickle cell disease

Strokes occurred in 17 of 310 children with homozygous sickle cell disease who were followed from birth, representing an incidence of 7.8% by the age of 14 years. Two children had subarachnoid hemorrhage, one having resolution of symptoms after aneurysm surgery and another dying of a presumed second hemorrhage 14 days later. The remaining 15 strokes were presumed to be cerebral infarction, although autopsy, angiographic, or computed tomographic evidence was available in only 8 children. There were 6 deaths, 2 in the acute event and 4 after recurrence, which occurred in 6 (46%) of 13 patients who survived the initial episode. There were 10 recurrent episodes at a median interval of 9 months after the initial event. Steady-state hematologic data revealed significantly higher leukocyte counts than in control subjects without strokes at age 1 year and in the last study preceding the stroke. The initial stroke coincided with an acutely lowered hemoglobin value in 5 patients (3 aplastic crises, 1 acute splenic sequestration, 1 probable pulmonary sequestration) and with painful crises in another 7 patients. We conclude that a high leukocyte count and an acute decrease of hemoglobin are risk factors for stroke in patients with homozygous sickle cell diseas

Sickle cell anaemia in Nigeria: a comparison between Benin and Lagos

The clinical and haematological features of 77 patients of Bini and 107 patients of Yoruba origin with homozygous sickle cell (SS) disease have been compared. The Bini population were generally younger and had a slightly lower incidence of alpha thalassaemia but even after correction for age and alpha thalassaemia status, this group had significantly lower HbA2 and higher HbF and MCV values. Clinically the Bini group had significantly less dactylitis and more acute chest syndrome. The decreased frequency of dactylitis is consistent with the higher HbF level in the Bini population and the mechanism of the other effects are discusse

Voluntary premarital screening to prevent sickle cell disease in Jamaica: does it work?

Contains fulltext : 174697.pdf (publisher's version ) (Closed access)To determine whether identifying haemoglobin genotype, and providing education and counselling to senior school students will influence their choice of partner and reduce the frequency of births with sickle cell disease. The Manchester Project provided free voluntary blood tests to determine haemoglobin genotype to the fifth and sixth forms (grades 11-13), median age of 16.7 years, of all 15 secondary schools in the parish of Manchester in south central Jamaica. A total of 16,636 students complied, and counselling was offered to carriers of abnormal genes over 6 years (2008-2013). The genotypes of their offspring were determined by newborn screening of 66,892 deliveries in 12 regional hospitals over 8 years (2008-2015). The study focused on the genotypes of live deliveries to female students with the four most common haemoglobin genotypes: 7905 with an AA genotype, 898 with the sickle cell trait, 326 with the HbC trait and 78 with the beta thalassaemia trait. A total of 2442 live deliveries were identified by the end of 2015 in mothers screened at school. Eleven babies had clinically significant genotypes, and the prevalence of SS and SC disease did not differ from that predicted by random mating. First pregnancy was not delayed in AS or AC mothers. There was no evidence that knowledge of maternal haemoglobin genotype influenced choice of partner. On an interview, mothers of affected babies correctly recalled their genotype, but either did not discuss this with their partners or the latter refused to be tested. Subjects delaying child bearing for tertiary education would be largely excluded from the present study of first pregnancies and may make greater use of this information. Future options are a greater role for prenatal diagnosis

The haematology of Jamaicans: red cell indices in HbAA, HbAS, HbAC, and HbA-HPFH genotypes

Based in the parish of Manchester in central Jamaica, the Manchester Project ofered free detection of haemoglobin genotype to senior classes in 15 secondary schools between 2008 and 2013. Restricting the database to 15,103 students aged15.0–19.9 years provided an opportunity to examine the red cell characteristics of the diferent haemoglobin genotypes,including normal (HbAA) in 85.0%, the sickle cell trait (HbAS) in 9.7%, HbC trait (HbAC) in 3.5% and hereditary persistenceof foetal haemoglobin (HbA-HPFH) in 0.4%. Compared to the normal HbAA phenotype, HbAS had signifcantly increasedmean cell haemoglobin concentration (MCHC), red cell count (RBC), and red cell distribution width (RDW) and decreasedmean cell volume (MCV) and mean cell haemoglobin (MCH), these diferences being even more marked in HbAC. Compared to HbAA, the HbA-HPFH had signifcantly increased RDW, but there were no consistent diferences in other red cellindices, and there were no signifcant diferences in haematological indices between the two common deletion HPFH variants,HPFH-1 and HPFH-2. Although these changes are unlikely to be clinically signifcant, they contribute to an understandingof the haematological spectrum of the common haemoglobin genotypes in peoples of African origin

Two different forms of homozygous sickle cell disease occur in Saudi Arabia

Haematological, clinical and some molecular genetic features of homozygous sickle cell (SS) disease in Saudi Arabia have been compared in 33 patients from the Eastern Province (Eastern) and 30 from the South Western Province (Western). Eastern patients all had the Asian beta globin haplotype whereas Western patients were more variable but predominantly of the Benin haplotype. Eastern patients had more deletional alpha thalassaemia, higher total haemoglobin and fetal haemoglobin levels, and lower HbA2, mean cell volume, reticulocytes, and platelet counts. Clinically, Eastern patients had a greater persistence of splenomegaly, a more normal body build and greater subscapular skin fold thickness, and Western patients had more dactylitis and acute chest syndrome. Painful crises and avascular necrosis of the femoral head were common and occurred equally in both groups. The disease in the Eastern province has many mild features consistent with the higher HbF levels and more frequent alpha thalassaemia but bone pathology (painful crises, avascular necrosis of the femoral head, osteomyelitis) remains common. The disease in the West is more severe consistent with the Benin haplotype suggesting an African origi

A comparison of sickle cell syndromes in Northern Greece

Haematological and clinical characteristics have been examined in 30 patients with homozygous sickle cell (SS) disease, 28 with sickle cell-beta° thalassaemia, and 21 with sickle cell-beta+ thalassaemia. The latter could be divided into three groups on their molecular basis and HbA levels, four subjects with an IVS-2 nt 745 mutation having 34% HbA (designated Sbeta+ thalassaemia type I), 14 subjects with an IVS-1 nt 110 mutation having 8–15% HbA (designated Sbeta+ thalassaemia type 11). and three subjects with an IVS–1 nt 6 mutation having 20–25% HbA (designated Sbeta+ thalassaemia type III). Comparisons were conducted between SS disease, Sbeta° thalassaemia, and Sbeta+ thalassaemia type II. Compared to SS disease, both thalassaemia syndromes had higher HbAr levels and red cell counts and lower mean cell haemoglobin content (MCHC), mean cell volume (MCV) and MCH, and Sbeta° thalassaemia had higher HbF and reticulocyte counts. Compared to Sbeta° thalassaemia. Sbeta+ thalassaemia had a higher haemoglobin and MCHC. Clinically, persistence of splenomegaly was more common in Sbeta° and Sbeta+ thalassaemia type II compared to SS disease. Few significant differences occurred between SS disease, Sbeta° and Sbeta+ thalassaemia type II in Northern Greece suggesting that the 8–15% HbA in the latter condition was insufficient to modify the clinical cours

Comparisons of homozygous sickle cell disease in Northern Greece and Jamaica

The clinical and haematological features of homozygous sickle cell (SS) disease were compared in 30 Greek and 310 Jamaican patients. Deletional ?-thalassaemia, which modifies SS disease, is rare among Greek patients, so only Jamaican patients with four ?-globin genes were included in the control group. Greek patients had higher total haemoglobin concentration and red cell counts, and lower mean cell haemoglobin concentration (MCHC) and reticulocyte counts. They also had a more normal body build and more adults had persistent splenomegaly. Fewer had a history of leg ulceration or priapism but more reported acute chest syndrome. The comparatively mild disease in Greek patients is consistent with less haemolysis and sickling and therefore less bone marrow expansion. In the absence of amelioriating factors such as high HbF concentration or ?-thalassaemia, these findings may be explained by the low MCH