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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.
DRCOG MCQs for Circuit B Questions
Published in Una F. Coales, DRCOG: Practice MCQs and OSCEs: How to Pass First Time three Complete MCQ Practice Exams (180 MCQs) Three Complete OSCE Practice Papers (60 Questions) Detailed Answers and Tips, 2020
Haemoglobin < 10 g dl1 in pregnancy:Associated with an increased risk of urinary tract infection.Recognized side-effect of anti-epileptic drugs.Readily responds to oral iron supplements.Increases the risk of postpartum haemorrhage.Common in sickle cell trait.
Haematological disorders
Published in Judy Bothamley, Maureen Boyle, Medical Conditions Affecting Pregnancy and Childbirth, 2020
The sickle cell trait provides protection against malaria which explains the increased prevalence in areas such as West Africa and India. Those with sickle cell trait have no symptoms, although individuals may need to be careful in situations where there may be a reduction of oxygen supply (such as when having a general anaesthetic), they may have haematuria on occasions including during pregnancy and may have increased susceptibility to urinary tract infections22,26. However, more than 300 variant (abnormal) haemoglobins have been identified and are named after letters of the alphabet or the place they were identified.5. Box 6.8 gives an overview of some of the significant variant combinations. Thalassaemia follows the same autosomal recessive pattern of inheritance as sickle cell disease and therefore to inherit clinically significant disorders both parents will be carriers of the defective gene. See the section ‘Thalassemia’ later in this chapter.
Epidemiology of Exertional Rhabdomyolysis in the United States: Analysis of NEISS Database 2000 to 2019
Published in The Physician and Sportsmedicine, 2022
Barry P. Boden, David J. Isaacs, Anwar E. Ahmed, Scott A. Anderson
African-Americans in this study were almost 4 times more likely to be diagnosed with ER than white patients and represented one-third of the ER cases, compared to a national population of 12%. The higher rate of ER in African-Americans has also been reported in the military [11,32]. This disproportionate incidence of ER may be due to the higher prevalence of sickle cell trait (SCT) in African-Americans (8%) [35]. In comparison, the overall estimate of SCT is 0.5% in Hispanics and 0.2% in white patients [32,33,36]. In a study on 48,000 African-American soldiers, the authors found a 50% higher risk of ER in soldiers with SCT [33]. Patients with SCT carry one abnormal sickle gene, which may increase the risk of intramuscular and microvascular sickling during strenuous exercise leading to impaired blood flow to muscles and ischemic rhabdomyolysis [37]. Sickle cell trait status should be a differential diagnosis in the management of ER. ER in a patient with sickle cell trait may be life-threatening.
Knowledge and Attitude toward Hemoglobinopathies in Premarital Screening Program among the General Population in the Western Region of Saudi Arabia
Published in Hemoglobin, 2022
Hibah A. Almasmoum, Aisha Tabassum, Mohammad Shahid Iqbal, Refal Abo-Alshamat, Waad Aqeeli
According to WHO, the two most common inherited hemoglobinopathies are sickle cell anemia and thalassemia and they are a major public health problem worldwide [14,15]. Sickle cell disease, an autosomal recessive inherited disorder in which individuals with a homozygous Hb S (HBB: c.20A>T) (βS/βS) genotype are severely affected, known as sickle cell anemia, whereas those with one copy of the sickle variant and one copy of the normal β-globin gene (Hb AS) (βA/βS), generally do not express the disease and are called carriers or sickle cell trait [16]. Thalassemia is a hemoglobinopathy caused by impaired synthesis of either the α or β hemoglobin (Hb) chain and is of two types, α- or β-thalassemia (α- or β-thal) [17]. The β-thal disorder is common mainly in the East and Western regions of KSA [18]. It is further classified as a β-thal trait (thalassemia minor) or β-thal major (β-TM) [19]. Patients with β-TM present with severe illness and need repeated blood transfusions, whereas β-thal trait individuals are generally asymptomatic and are detected incidentally through routine blood testing [19,20]. Children of the β-thal trait individuals can inherit β-TM if their partner also has β-thal trait. Patients with β-TM require a lot of financial, social, and psychological support for the maintenance and treatment of their illness [3,21]. The estimated prevalence of β-thal and sickle cell anemia in KSA is 1.0–5.0% and 17.0%, respectively, as per the general statistical organization [1–3].
IVS-II-16 (G>C) (HBB: c.315+16G>C) or IVS-II-666 (C>T) (HBB: c.316-185C>T) Mutations Trigger an Hb S (HBB: c.20A>T)/β+-Thalassemia Phenotype in an Hb S Trait Patient
Published in Hemoglobin, 2021
Süheyl Uçucu, Talha Karabıyık, Fatih M. Azik
Sickle cell trait is a medical condition due to the presence of both mutant Hb S and normal Hb A alleles. The main characteristic is that most patients are typically asymptomatic, and they do not experience critical complications. Therefore, genetic testing is not performed in these cases. Moreover, a very small number of patients suffering from clinical complications of sickle cell anemia at different degrees have also been reported in the literature [1]. Sudden death, exercise-induced rhabdomyolysis, vascular thromboembolism, pulmonary embolism, splenic infarction, and renal complications in sickle cell trait cases, reported in recent studies, have shown that postulating sickle cell trait as harmless should be reviewed and the molecular basis and risk factors of sickle cell trait evaluated [1,2].