Centre d’information et de dépistage de la drépanocytose à Paris

Tchernia, Gil; Bardakdjian, J.; Lainé, Agnès; Ly, Aïcha; Orssaud, Geneviève; Larnaudie, S.

doi:10.1016/s0001-4079(19)32685-8

Cited by 1 publication

(1 citation statement)

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“…The country-scale benefit of newborn screening is likely to be confirmed in coming years, and clinical protocols for the comprehensive care of all affected newborns in the various countries are likely to be shared. In parallel, genetic counseling and prenatal diagnosis for SCD carriers might help to raise awareness of the potential consequences of carrying abnormal Hb traits, assess the risk of recurrence, and promote family testing (59,93,102).…”

Section: Clinical Characteristics and Social Impact Of Sickle Cell Di...mentioning

confidence: 99%

Sickle Cell Disease: From Genetics to Curative Approaches

Hardouin,

Magrin,

Corsia

et al. 2023

Annu. Rev. Genom. Hum. Genet.

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Sickle cell disease (SCD) is a monogenic blood disease caused by a point mutation in the gene coding for β-globin. The abnormal hemoglobin [sickle hemoglobin (HbS)] polymerizes under low-oxygen conditions and causes red blood cells to sickle. The clinical presentation varies from very severe (with acute pain, chronic pain, and early mortality) to normal (few complications and a normal life span). The variability of SCD might be due (in part) to various genetic modulators. First, we review the main genetic factors, polymorphisms, and modifier genes that influence the expression of globin or otherwise modulate the severity of SCD. Considering SCD as a complex, multifactorial disorder is important for the development of appropriate pharmacological and genetic treatments. Second, we review the characteristics, advantages, and disadvantages of the latest advances in gene therapy for SCD, from lentiviral-vector-based approaches to gene-editing strategies.

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Section: Clinical Characteristics and Social Impact Of Sickle Cell Di...mentioning

confidence: 99%