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Sickle Cell Anemia/Hemoglobin SS Disease
Published in Charles Theisler, Adjuvant Medical Care, 2023
Sickle cell disease (SCD) is an inherited type of anemia affecting mostly people of African ancestry. An abnormal oxygen-carrying protein (hemoglobin S) found in red blood cells causes cells to deform into rigid, sickle-like shapes under circumstances (e.g., low oxygenation such as being at high altitudes, dehydration, illness, or going from a warm to a cold environment). These irregularly shaped cells do not flow well and can get stuck in small blood vessels, slowing or blocking blood flow and oxygen to parts of the body.
Sickle Cell Disease
Published in Vincenzo Berghella, Maternal-Fetal Evidence Based Guidelines, 2022
Sickle cell disease is an autosomal recessive disease resulting from an alteration in the structure of hemoglobin producing hemoglobin S (HbS). It is characterized by chronic hemolytic anemia and vaso-occlusive events.
Carrier Screening For Inherited Genetic Conditions
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
Whitney Bender, Lorraine Dugoff
Sickle cell disease refers to a group of autosomal recessive disorders involving hemoglobin S. Hemoglobin S differs from hemoglobin A due to a single nucleotide substitution in the beta-globin gene on chromosome 11. The most severe form of sickle cell disease, sickle cell anemia, occurs in individuals with two copies of hemoglobin S. Sickle cell disorders can also occur in individuals who have hemoglobin S and another abnormality of B-globin structure or production such as hemoglobin C or beta-thalassemia. Sickle cell disease occurs most commonly in people of African origin. One in 12 African Americans has sickle cell trait. Patients with sickle cell disease are prone to distortion, or sickling, of their red blood cells under conditions of decreased oxygen tension. These distorted cells can result in increased viscosity, hemolysis, and anemia, resulting in interrupted blood supply to vital organs. These vasoocclusive crises can cause interruption of normal perfusion and function of several organs, including the spleen, lungs, kidney, heart, and brain. See Chap. 15 in Maternal-Fetal Medicine Evidence Based Guidelines.
An innovative intervention for the prevention of vaso-occlusive episodes in sickle cell disease
Published in Hematology, 2023
Won Jin Jeon, Bowon Joung, Jin Hyun Moon, Christopher Hino, Daniel Park, Bryan Pham, Dan Ran Castillo, Esther Chong, Simmer Kaur, Chanell Grismore, Huynh Cao
Recurrent VOEs in patients with SCD are linked to early mortality and financial hardship, which negatively impact quality of life [1,9]. Given a longitudinal medical burden and multifactorial processes underlying VOEs, novel strategies and regimens have been innovated to reduce the occurrence of VOEs. Hydroxyurea was one of the first treatments approved to reduce VOEs in the multicenter MSH study, and prophylactic blood transfusion is commonly used as a preventative measure in addition to hydroxyurea [10]. In the pediatric setting, several landmark randomized control trials have demonstrated the efficacy of chronic blood transfusions and hydroxyurea for secondary stroke prevention [11–15]. However, the use of chronic blood transfusions outside of this indication are limited to observational studies and expert opinion. Recently, the use of L-glutamine was shown to result in reduced VOEs, along with a possible reduction in the frequency of VOEs [16]. Other novel treatment regimens include voxelotor, a hemoglobin S (HgbS) polymerization inhibitor, crizanlizumab, a humanized IgG2 Kappa monoclonal antibody which binds to P-selectin, and fetal hemoglobin inducers [1,17]. While promising, larger randomized control studies are warranted to compare the effectiveness of each treatment options in reducing the frequency of VOEs.
Case Fatality Rate and Severity of COVID-19 among Patients with Sickle Cell Disease: A Systematic Review and Meta-Analysis
Published in Hemoglobin, 2023
Tarcísio Silva Borborema, Julio Cesar Moreira Brito, Edleusa Marques Lima Batista, Rodrigo Siqueira Batista
Hemoglobin S can polymerize under low oxygen tension conditions and form insoluble precipitates in red blood cells, causing red blood cells to become sickle-shaped [12,13]. Overall, SCD primarily affects people of African descent, approximately 100,000 people in the United States and millions of people in sub-Saharan Africa, the Middle East, and the Indian subcontinent [14]. Patients with SCD experience multiple crises during their lifetime, most commonly the painful vaso-occlusive crises that are the leading cause of hospitalization [15]. In addition, patients with SCD are likely to develop acute chest syndrome (ACS) due to the abnormal rheology of red blood cells, in which they form clumps and obstruct pulmonary microcirculation, leading to severe hypoxia and infarction [16]. Although less common than vaso-occlusive crises, ACS is currently considered the leading cause of death in patients with SCD [12,13].
Pairing parents and offspring's HemoTypeSC Test to validate results and confirm sickle cell pedigree: a case study in Kisangani, the Democratic Republic of the Congo
Published in Hematology, 2022
Emmanuel Tebandite Kasai, Justin Ntokamunda Kadima, Jean Pierre Alworong’a Opara, François Boemer, Marie Françoise Dresse, Julie Makani, Vincent Bours, Roland Marini Djang’eing’a, Kambale-Kombi Paul, Salomon Batina Agasa
Sickle cell disease (SCD) is an inherited autosomal recessive genetically transmitted hemoglobinopathy responsible for significant morbidity and mortality [1,2]. It is characterized by the presence of homozygous hemoglobin S (HbSS), or by the presence of compound heterozygous HbS with a second variant or a β-thalassemia allele. HbSS mainly affects children originating from black populations, particularly in sub-Saharan Africa (SSA) [3–5]. It alone contributes to around 5–16% of the mortality of children under 5 on the African continent [3,5,6]. Approximately 500 children under the age of 5 die daily from SCD due to a lack of rapid diagnosis and appropriate care, yet SCD remains an invisible global health problem [7]. In the Democratic Republic of the Congo (DRC), studies reported approximately 1.5% of homozygotes and 20–40% of heterozygotes in the population [8,9]. Thirty thousand to forty thousand SS newborns are born there each year [8], bringing the neonatal prevalence to 1.4% [8–10].