Sickle cell anemia: clinical diversity and beta S-globin haplotypes

βSglobin gene haplotype and the stroke risk among Egyptian children with sickle cell disease

“…However, previous study on Egyptian patients agrees with our findings where no correlation was observed between clinical severity and β S globin gene haplotype [14]. Another more recent Brazilian studies also stated that there was no correlation between β S globin gene haplotype and stroke in SCD [30,31]. These controversial results are probably related to the small sample size in each study.…”

Craniofacial features of patients with sickle cell anemia and sickle cell trait

“…The red blood cell (RBC) bends and shapes in the form of sickle. 2,5 This has consequences such as reduced ability to transport oxygen to the tissues, vasoclusive events, and shorter lifetime of the RBC. 7,8 Constant production of RBC becomes necessary, which causes hyperplasia and compensatory growth of the bone marrow, possibly resulting in changes in bone structure that can be observed radiographically as postulated by Souza et al 9 and Natour et al 10 Craniofacial abnormalities may be noted, such as overgrowth/protrusion of the midface, maxillary expansion, predominantly vertical growth, mandibular retrusion, convex profile, and protruding maxila.…”

“…1 Sickle cell anemia (SCA), one of these most common diseases worldwide, reaches a significant portion of the population. [2][3][4] It is caused by a mutation in the beta globin gene of hemoglobin, which leads to an abnormal hemoglobin called hemoglobin S (HbS).…”

Identification of β-globin haplotypes linked to sickle hemoglobin (Hb S) alleles in Mazandaran province, Iran

“…These haplotypes are named after the geographical areas where they are most prevalent. Haplotype analysis of the β S allele helps us to trace the origin of this hemoglobin variant in a region (Pagnier et al, 1984;Serjeant, 1994;Loggetto, 2013). The aim of this study was to investigate the haplotypes associated with β S alleles in Mazandaran province, Iran.…”