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Haematological Disease
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
Haemoglobinopathies can be divided into two broad groups: Reduced synthesis of globin chains (the thalassaemias): These disorders are caused by a wide range of genetic mutations affecting both α-globin and β-globin genes.Structural haemoglobin variants: These are caused by genetic mutations encoding single nucleotide/amino acid substitutions (haemoglobin S, haemoglobin C, haemoglobin E and more than 200 other variants), many of which have no clinical effect. Clinically important structural variants all affect β-globin chains.
Host Defense II: Acquired Immunity
Published in Constantin A. Bona, Francisco A. Bonilla, Textbook of Immunology, 2019
Constantin A. Bona, Francisco A. Bonilla
In red blood cells of patients with sickle cell trait, parasites induce sickling. The sickled cells are rapidly cleared from the circulation in the spleen, aborting the parasite life cycle. Sickling may also kill the parasites directly. In hemoglobin C disease, cells are very resistant to lysis and the merozoites cannot escape to propagate the infection. Hemoglobin E (possibly the most common mutant human hemoglobin) leads to erythrocyte resistance for replication and rapid clearance of infected cells. In hereditary persistence of fetal hemoglobin the fetal hemoglobin retards growth of Plasmodia. Ovalocytes (erythrocytes with altered membrane structure occurring in individuals with hereditary ovalocytosis) are resistant to penetration by P. falciparum. In glucose-6-phosphate dehydrogenase deficiency erythrocytes are resistant to plasmodium replication, possibly because the parasite requires the host enzyme. Epidemiologic and population studies strongly suggest a protective effect of various thallassemias in malaria, but the mechanism is not known.
Iron Deficiency Anemia
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Donald P. Skoog, James R. Newland
Hemoglobin E, common in Southeast Asians, causes microcytosis that is mild in heterozygotes and marked in homozygotes (17). Heterozygotes are usually not anemic and homozygotes only mildly so. Hemoglobin electrophoresis is diagnostic.
The prevalence of hemoglobin Tacoma in Finland detected by HbA1c capillary electrophoresis
Published in Scandinavian Journal of Clinical and Laboratory Investigation, 2023
Päivikki Kangastupa, Kari Åkerman, Sari Risku, Matti Väisänen, Rutta Kuusela, Jarkko Romppanen, Annika Kouki, Mia Sneck, Outi Itkonen, Onni Niemelä
Hemoglobin Tacoma is a single nucleotide point mutation of the beta subunit at position 93, where guanine is replaced with thymine causing arginine to serine change at the amino acid level (NM_000518.5(HBB):c.93G > T (p.Arg31Ser), HGVS nomenclature) [4]. The same amino acid change may also be due to guanine to cytosine mutation, namely Hb Tacoma II (NM_000518.5(HBB):c.93G > C (p.Arg31Ser)) [4]. These variants can be identified based on a characteristic electropherogram in a routine HbA1c analysis on capillary electrophoresis. The method separates molecules based on their electrophoretic mobility (size and charge), which also depends on the pH and ionic strength of the buffer. HbA1c is separated due to a change in net charge caused by the N-terminal glycation and, simultaneously, the method allows for the detection of some of the variant hemoglobins. Hemoglobin(E) is a capillary electrophoretic method designed more specifically for the detection of hemoglobin variants, without the separation of glycated hemoglobins.
The successful strategy of comprehensive pre-implantation genetic testing for beta-thalassaemia–haemoglobin E disease and chromosome balance using karyomapping
Published in Journal of Obstetrics and Gynaecology, 2022
Sirivipa Piyamongkol, Suchada Mongkolchaipak, Pimlak Charoenkwan, Rungthiwa Sirapat, Wanwisa Suriya, Tawiwan Pantasri, Theera Tongsong, Wirawit Piyamongkol
Haemoglobin E disease, c.26G>A variant of beta-globin gene, is the commonest haemoglobinopathy in Asia (Fucharoen and Weatherall 2012). When this haemoglobin E gene is inherited together with a beta-thalassaemia gene a compound heterozygote is generated, specifically one with beta-thalassaemia–Hb E disease with severe anaemia. beta-Thalassaemia–Hb E disease contributes to approximately half of all cases of severe beta-thalassaemia syndrome worldwide (Than et al. 2005). In Thailand, between 30 and 50% of the population are thalassaemia carriers, i.e. around 24 million, with 600,000 existing patients (Chaibunruang et al. 2018). Continuous blood transfusion is needed in cases of severe thalassaemia; however, these lead to iron overload which potentially damages multiple organs and reduces the quality of life and life expectancy. Iron chelator therapy can prolong life expectancy but has significant side effects. Bone marrow transplantation and gene therapy are the present ultimate options with high levels of expenditure and risk of complications (Caocci et al. 2017).
Inter-regional differences in body proportions in Indian children and adolescents—a cross-sectional multicentric study
Published in Annals of Human Biology, 2020
Smruti Vispute, Vaman Khadilkar, Anuradha Khadilkar, Veena Ekbote, Narendra Singh, Shashi Chiplonkar
Studies also suggest that, about 60,000 ybp, Homo sapiens independently evolved in China and migrated to India (Ballinger et al. 1992; Crow 1998). Various studies based on genetics, verbal communication and dialects help to understand the possible origin of the north-eastern Indian population (Roychoudhury 1992). Achoubi et al. (2012) performed a genetic study, using mutated haemoglobin E as a genetic marker, on a population of north-eastern Indians suffering from haemoglobinopathies. The study highlights similarities in the genetic stock of the current north-eastern Indian population with the ‘mongoloids’ and their possible migration from China (Das et al. 1987). Linguistic studies also suggest that Tibeto-Burman was the most commonly used language in north-east India. Grierson has described the origin of various sub-group families of Indian languages; his work suggests that the Tibeto-Burman language primarily originated from China and is a sub-family of Indo-Chinese languages (Grierson 1903). Thus, the linguistic theory also supports the possible migration of north-eastern Indians from China.