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Genetic Principles
Published in Gail S. Anderson, Biological Influences on Criminal Behavior, 2019
Another example is sickle cell anemia.2 This disease of the blood is common in people of African descent and much rarer in others. The red blood cells of a person with sickle cell anemia cannot carry oxygen very well, so people suffering from sickle cell anemia develop a multitude of health problems, and the disease is usually fatal. It occurs in about 1 in every 400 African Americans, which is a fairly high rate. Why would something like that be more common in one ethnic group than in another? Remember that there is a higher chance of producing one of these disorders if you marry close family members, and this concept can be expanded to show that this would also apply if you marry only within a particular group of people. Most people do marry within ancestral groups, and sometimes even closer—within a village or regional area, for example. Therefore, there is a higher chance that they will meet someone else with the recessive gene. The frequency of the alleles in different ancestral groups is different. It may be, for example, 20% in the African American population but only 2% in other ancestral groups. Therefore, your chances of meeting someone with a recessive gene are higher if you marry within your own ancestral group. The same is true for Tay-Sachs disease, which is common in Jewish people, but only in those whose ancestors come from Central Europe, a group called Ashkenazic Jews. There are many other such diseases; for example, porphyria (the disease that is thought to have resulted in the belief in vampires) is more common among Caucasians.
The HbS Containing Cell
Published in Ronald L. Nagel, Genetically Abnormal Red Cells, 2019
Ronald L. Nagel, Mary E. Fabry
About 10% of sickle cell anemia patients are affected at some time by acute right upper quadrant pain and a sudden increase of their bilirubin level to 3 to 5 times their steady state values, accompanied by increased transaminases, but below 300 IU/ℓ. The event is generally self-limited and lasts 3 to 7 days.211,212
The Concept of Health
Published in Dien Ho, A Philosopher Goes to the Doctor, 2019
Coming from the opposite end of the spectrum, theorists like Rachel Cooper, Tristram Engelhardt, Lawrie Reznek, and Caroline Whitbeck argue that health and disease can be understood only in terms of our values. These value-laden views are sometime referred to as normativism or constructivism. For example, Cooper (2002) argues that a disease must satisfy three conditions: The condition must be a bad thing for the sufferer;The sufferer must be unlucky; andThe condition must be potentially medically treatable.Take a person who has inherited one gene for sickle cell anemia. She has sickle cell trait (SCT) but does not have any of the symptoms of sickle cell anemia. Although she can pass on the sickle cell recessive gene to her children, her SCT provides some level of immunity against malaria (something that she values). According to Cooper, SCT would not be a disease for this particular woman (by condition (1). Of course, if it turns out that she values not passing the gene to her children over increased immunity to malaria, then it would be a different matter.
Preconception care counselling among women with sickle cell anaemia in the south of Iran: a qualitative study based on social marketing model
Published in Journal of Obstetrics and Gynaecology, 2022
Asiyeh Pormehr-Yabandeh, Teamur Aghamolaei, Zahra Hosseini, Nasibeh Roozbeh, Amin Ghanbarnezhad
Sickle cell anaemia is a common inherited blood cell disorder worldwide (Nasiri et al. 2020). This disease is seen annually among 300,000 neonates in the world (Ghafuri et al. 2017). The incidence rate of sickle cell heterozygote and sickle cell anaemia in the south of Iran is about 1.43 and 0.1, respectively. The incidence rate of sickle cell disease in the centre of Iran is 8%. This rate is 6.1 in Kermanshah (Sar-Pol-Zahab) (Saeidi et al. 2014). The preconception period is of great significance among sickle cell patients. The prevalence of the disease in the preconception period in recent investigations is due to the increasing number of women afflicted with preconception sickle cell which, in turn, results from more medical care provision (Omole-Ohonsi et al. 2012). As a work of research in preconception care providing clinics in Nigeria showed, the incidence rate of sickle cell disease is 19.77. The incidence rate of the sickle cell was also reported in 0.14% of pregnancies. Thus, the rate of the sickle cell disease has been reported to be high in this geographic region (Nwabuko et al. 2016). Many investigations indicated the adverse effects of pregnancy on women with sickle cell disease. These women had higher chances of preconception consequences and infections (Desai et al. 2017).
Emerging drugs for the treatment of sickle cell disease: a review of phase II/III trials
Published in Expert Opinion on Emerging Drugs, 2022
Jules M. Ross, Stéphanie Forté, Denis Soulières
Between 2005 and 2015 in the United States, the estimated incremental economic burden of SCD was $2.98 billion per year, with 57% attributable to inpatient costs and 5% to patient expenses ($1293 per patient per year) [33]. Sickle cell anemia is the first well-described molecular disease in medical history and is associated with significant health care resource utilization, yet it has received little attention and research funding compared to other less common inherited diseases [14]. While 20 new drugs were granted approval for the treatment of cystic fibrosis, the FDA approved only two agents for SCD in the same timespan [34]. In 2022, only four drugs have made their way from bench to bedside: voxelotor (Global Blood Therapeutics) on one side, showing hemoglobin response but no consistent improvement in pain or transfusion outcomes in the overall population (see below), while L-glutamine (Emmaus Medical Inc.) and crizanlizumab (Novartis) on the other side seem effective on pain outcomes but do not address the seminal red cell component. Some of the upcoming agents are looking at both hemoglobin response and annual VOCs in their pivotal studies, including the pyruvate kinase activators mitapivat and etavopivat.
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].