A comparison of sickle cell syndromes in Northern Greece

Christakis, John; Vavatsi, N.; Hassapopoulou, Helen P.; Angeloudi, M.; Papadopoulou, Maria; Loukopoulos, Dimitris; Morris, J.N.; Serjeant, B. E.; Serjeant, G. R.

doi:10.1111/j.1365-2141.1991.tb08589.x

Cited by 34 publications

(16 citation statements)

References 8 publications

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“…Although heterogeneity in the clinical presentation of the Sβ+ genotype is well reported, depending on the specific β+ mutation and quantity of normal HbA (Christakis et al , ), Sβ+ is generally associated with milder disease severity. However, the Sβ+ patients in the REDS‐III Cohort appear to exhibit a more severe phenotype, particularly in complications related to pain (treatment with chronic pain medication, vaso‐occlusive pain hospitalisations), which were observed as frequently in Sβ+ patients as SCA patients.…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic ancestry profile of a large multi‐centre sickle cell disease cohort in Brazil

et al. 2018

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Approximately 3500 children with sickle cell disease (SCD) are born in Brazil each year, but the burden of SCD morbidity is not fully characterised. A large, multi-centre cohort was established to characterise clinical outcomes in the Brazilian SCD population and create the infrastructure to perform genotype-phenotype association studies. Eligible patients were randomly selected from participating sites and recruited at routine visits. A biorepository of blood samples was created and comprehensive demographic and clinical outcome data were entered in a centralized electronic database. Peripheral blood genome-wide single nucleotide polymorphism (SNP) genotyping was performed using a customized Transfusion Medicine (TM) Array. A total of 2795 participants at six Brazilian sites were enrolled between 2013 and 2015. The cohort included slight predominance of children <18 years (55·9%) and females (53·0%). Haemoglobin (Hb) SS was the most common SCD genotype (70·7%), followed by HbSC (23%), Sβ0 (3·0%) and Sβ+ (2·9%). SNP data from the TM Array were analysed to evaluate the genetic ancestry of the cohort and revealed significant admixture among the population. Demographics and clinical complications, stratified by age and SCD genotype, are summarized and future studies in this cohort are discussed.

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Section: Discussionmentioning

confidence: 99%

Clinical and genetic ancestry profile of a large multi‐centre sickle cell disease cohort in Brazil

et al. 2018

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“…Splenomegaly is usually correlated in the Greek population with the co-occurrence of b-thalassemia and a low hemolytic rate, whereas hemoglobin SC disease and co-occurrence of b-thalassemia are usually associated with splenomegaly in Jamaican population. Indian sickle cell disease has been found similar to that occurring in eastern Saudi Arabia and shares the same Asian haplotype of the b S globin gene [11,[32][33][34][35][36].…”

Section: Discussionmentioning

confidence: 99%

Fibrocongestive splenomegaly in sickle cell disease: A distinct clinicopathological entity in the Eastern province of Saudi Arabia

Chopra¹,

Al-Mulhim²,

Al-Baharani³

2005

American J Hematol

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Sickle cell disease displays a unique progression in the Eastern province of Saudi Arabia, where splenomegaly with hypersplenism is noted with high frequency in the adolescent and adult patients. The late persistence of splenomegaly although likely reflects the milder progression of sickle cell disease in this region; nevertheless, it predisposes the patients to increased morbidity. The present study documents the characteristic clinicopathological features of splenomegaly associated with sickle cell disease in the Al-Hassa region of Eastern province Saudi Arabia. Forty-four cases of sickle cell disease patients in whom splenectomy was performed during 1999-2003 were studied. The hemoglobinopathy profiles of the patients (age range 5-42 years) comprised sickle cell anemia (8 cases), sickle cell anemia with high fetal hemoglobin (23 cases), and sickle cell-b thalassemia (13 cases). All patients had manifestations of hypersplenism and 39 patients experienced episodes of minor-type sequestration crisis. Splenectomy was effective in ameliorating the hematological abnormalities in all cases, without any major complications in the follow-up period. The splenectomy specimens showed moderate-to-marked enlargement in most cases, with histological features of fibrocongestive splenomegaly and prominent Gandy-gamma body formations. Micro-infarcts in 27 cases and gross infarctions in 9 cases were evident. The relationship of persistent splenomegaly with higher fetal hemoglobin levels and splenic hypofunction is examined along with the significance of splenectomy in these cases. Am.

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“…Sickle ␤-thalassemia (S␤-thalassemia) is relatively more common in the Mediterranean because of the high prevalence of ␤-thalassemia genes 11 and is classified as ␤ 0 and ␤ ϩ genotypes according to the presence and quantity of hemoglobin A. Patients with the ␤ ϩ type I genotype have 3 to 5% HbA, those with the ␤ ϩ type II genotype, the most common in Greece, have 6 to 14% HbA, and those with the ␤ ϩ type III genotype have 15 to 25% HbA.…”

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confidence: 99%

Central nervous system abnormalities in asymptomatic young patients with Sβ‐thalassemia

Zafeiriou

Prengler

Gombakis

et al. 2004

Annals of Neurology

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Twenty-one children and young adults with sickle/beta-thalassemia without overt stroke were examined with magnetic resonance imaging and angiography (MRA), transcranial Doppler (TCD), visual (VEP) and median nerve somatosensory (SEP)-evoked potential recordings, and neuropsychological testing (Wechsler Intelligence Scale [WISC-III]). Eight (38%) had silent infarction in the parietooccipital cortex, deep white matter, or basal ganglia, including two of three with previous seizures. Of 17 undergoing TCD, none had maximum middle cerebral artery (MCA) velocities greater than 126cm/sec, but 9 were abnormal, with low velocities and difficulty in tracking the MCA and/or asymmetry. Three patients had abnormal MRA, one of whom also had silent infarction. One patient had pathological VEP recordings, whereas all SEP recordings were normal. WISC-III was performed in all 11 children, 4 with silent infarction: all but 1 had IQ scores greater than 85 (mean, 97.7; standard deviation, 14.2). We conclude that Greek children and young adults with Sbeta-thalassemia and no history of clinical stroke have TCD abnormalities and silent infarction similar to those reported in children and adolescents with sickle cell anemia, but cognitive function is not necessarily compromised. International collaboration is needed to establish the risk factors for central nervous system sequelae in patients with sickle cell disease, including Sbeta-thalassemia, leading to evidence-based prevention.

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A comparison of sickle cell syndromes in Northern Greece

Cited by 34 publications

References 8 publications

Clinical and genetic ancestry profile of a large multi‐centre sickle cell disease cohort in Brazil

Clinical and genetic ancestry profile of a large multi‐centre sickle cell disease cohort in Brazil

Fibrocongestive splenomegaly in sickle cell disease: A distinct clinicopathological entity in the Eastern province of Saudi Arabia

Central nervous system abnormalities in asymptomatic young patients with Sβ‐thalassemia

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