Differences in the clinical and genotypic presentation of sickle cell disease around the world

Abstract

Summary Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions. Cardiopulmonary complications are major causes of morbidity and mortality. Hemoglobin SS (Hb SS) represents a large proportion of SCD in the Americas, United Kingdom, and certain regions of Africa while higher proportions of hemoglobin SC are observed in Burkina Faso and hemoglobin Sβ-thalassemia in Greece and India. Coinheritance of α-thalassemia and persistence of hemoglobin F production are observed in highest frequency in certain regions of India and the Middle East. As confirmed in the PUSH and Walk-PHaSST studies, Hb SS, absence of co-inheriting alpha-thalassemia, and low hemoglobin F levels tend to be associated with more hemolysis, lower hemoglobin oxygen saturations, greater proportions of elevated tricuspid regurgitant jet velocity and brain natriuretic peptide, and increased left ventricular mass index. Identification of additional genetic modifiers will improve prediction of cardiopulmonary complications in SCD.

Introductory Chapter: Introduction to the History, Pathology and Clinical Management of Sickle Cell Disease

“…Several years later it was suggested that by increasing or prolonging the concentration of foetal hemoglobin in erythrocytes, it would be possible to decrease the frequency and severity of the clinical manifestations of SCD [50][51][52].…”

“…Treatment with HU at maximum tolerated dose and judicious use of blood transfusion support and iron-chelating agents where indicated is recommended [66]. While HU is a potential NO donor effect, it has not been shown to impact mortality of SCD-related PAH [51]. There is increasing interest in the use of sildenafil in SCD-related PAH.…”

Major sickle cell syndromes in children in Kenitra, Morocco

“…The most common forms of SCD, include the homozygous form SS, the composite heterozygous form SC and the S beta thalassemia form with a significant prevalence of major forms SS [3]. In Morocco, information regarding the occurrence and epidemiology of hemoglobinopathies is very scarce and according to World Health Organization the rate of carriers in Morocco is about 6.5%, suggesting the existence of 30 000 cases of major forms [4].…”

Hemoglobin Varyantlarının Ölçümünde Interlab-G26 Elektroforezi ve Primus Ultra2 HPLC Yöntemlerinin Karşılaştırılması

“…Hemoglobin molekülü "hem" adı verilen prostetik grup ile globin adı verilen protein kısımdan oluşur ve normalde vücutta bulunan hemoglobinin % 95-96' sı Hemoglobin A1, % 2.5-3.5'i Hemoglobin A2 ve % 1' den azı Hemoglobin F 'dir (2). Talasemiler hemoglobinin globin geninde meydana gelen sentez eksikliğine bağlı olarak oluşur ve eksik olan zincir tipine göre alfa veya beta talesemi olarak adlandırılır.…”