Abstract
The blood is a type of body fluid that delivers necessary substances such as nutrients and oxygen and excludes metabolic waste products. In vertebrates including humans, blood is composed of blood cells suspended in plasma. Plasma, which constitutes 55% of blood fluid, is mostly water and contains proteins, glucose, mineral ions, hormones, carbon dioxide, and blood cells themselves. The blood cells which are mainly derived from hematopoietic stem cells in bone marrow are composed of red blood cells (RBCs/erythrocytes), white blood cells (WBCs/leukocytes), and platelets. RBCs are the most abundant cells among them which contain hemoglobin, an iron-containing protein, to facilitate oxygen transport. Vertebrate blood is bright red when its hemoglobin is oxygenated and dark red when it is deoxygenated. WBCs have nuclei, which distinguishes them from RBCs and platelets. WBCs can be divided into neutrophils, eosinophils, basophils, lymphocytes, and monocytes according to their physical and functional characteristics. Platelets are derived from the megakaryocytes of the bone marrow, and then enter the circulation. Circulating inactivated platelets are biconvex discoid structures, whereas activated platelets have cell membrane projections covering their surfaces. Platelets are only found in mammal.
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Pruthi RK and Heit JA (2007) Coagulation disorders. In: Leonard D.G.B., Bagg A., Caliendo A.M., Kaul K.L., Van Deerlin V.M. (eds) Molecular pathology in clinical practice. Springer, New York, NY.
Srivastava A, Brewer AK, Mauser-Bunschoten EP, et al. Guidelines for the management of hemophilia. Haemophilia. 2013;19:e1–47.
Jourdy Y, Janin A, Fretigny M, et al. Reccurrent F8 intronic deletion found in mild hemophilia a causes alu exonization. Am J Hum Genet. 2018;102:199–206.
Maclean RM, Makris M. Hemophilia A and B. In Key, Nigel S. Makris, Michael Lillicrap, David (eds) Practical hemostasis and thrombosis. Wiley-Blackwell, UK, 2017.
Bagnall R, Waseem N, Green P, et al. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood. 2002;99:168–74.
Melchiorre D, Linari S, Manetti M, et al. Clinical, instrumental, serological and histological findings suggest that hemophilia B may be less severe than hemophilia A. Haematologica. 2015;101:219–25.
James P, Lillicrap D. Molecular diagnostic approaches to hemostasis. In Key, Nigel S. Makris, Michael Lillicrap, David (eds) Practical hemostasis and thrombosis. Wiley-Blackwell, UK, 2017.
Hanley J, McKernan A, Creagh MD, et al. Guidelines for the management of acute joint bleeds and chronic synovitis in haemophilia: A United Kingdom Haemophilia Centre Doctors’ Organisation (UKHCDO) guideline. Haemophilia. 2017;23:511–20.
Swystun LL, Lillicrap D. Gene therapy for coagulation disorders. Circ Res. 2016;118:1443–52.
Sadler JE, Budde U, Eikenboom JCJ, et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost. 2006;4:2103–14.
Atiq F, Meijer K, Eikenboom J, et al. Comorbidities associated with higher von Willebrand factor (VWF) levels may explain the age-related increase of VWF in von Willebrand disease. Br J Haematol. 2018;182:93–105.
Leebeek FW, Eikenboom JC. Von Willebrand’s disease. N Engl J Med. 2016;375:2067–80.
James PD, Notley C, Hegadorn C, et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood. 2007;109:145–54.
Goodeve A, Eikenboom J, Castaman G, et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 vonWillebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 vonWillebrand Disease (MCMDM-1VWD). Blood. 2007;109:112–21.
Collins P, Hay C, Bolton-Maggs P, et al. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost. 2006;96:630–41.
Nichols WL, Hultin MB, James AH, et al. von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia. 2008;14:171–232.
Kumar R, Kahr WH. Congenital thrombocytopenia: clinical manifestations, laboratory abnormalities, and molecular defects of a heterogeneous group of conditions. Hematol Oncol Clin North Am. 2013;27:465–94.
Bellissimo DB. Hematologic disorders: hemochromatosis, hemoglobinopathies, and Rh incompatibility. In: Leonard DGB, Bagg A, Caliendo AM, Kaul KL, Van Deerlin VM, editors. Molecular Pathology in Clinical Practice. New York, NY: Springer; 2007.
He Z, Russell JE. Expression, purification, and characterization of human hemoglobins Gower-1 (zeta(2)epsilon(2)), Gower-2 (alpha(2)epsilon(2)), and Portland-2 (zeta(2)beta(2)) assembled in complex transgenic-knockout mice. Blood. 2001;97:1099–105.
Hossain MS, Raheem E, Sultana TA, et al. Thalassemias in South Asia: clinical lessons learnt from Bangladesh. Orphanet J Rare Dis. 2017;12:93.
Jha AN, Mishra H, Verma HK, et al. Compound heterozygosity of beta-thalassemia and the sickle cell hemoglobin in various populations of Chhattisgarh State, India. Hemoglobin. 2018;42:84–90.
Hassell KL. Population estimates of sickle cell disease in the U.S. Am J Prev Med. 2010;38:S512–21.
Azar S, Wong TE. Sickle cell disease: a brief update. Med Clin North Am. 2017;101:375–93.
Ware RE, de Montalembert M, Tshilolo L, et al. Sickle cell disease. Lancet. 2017;390:311–23.
Yawn BP, Buchanan GR, Afenyi-Annan AN, et al. Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. JAMA. 2014;312:1033–48.
Novelli EM, Gladwin MT. Crises in sickle cell disease. Chest. 2016;149:1082–93.
Nelson DA, Deuster PA, Carter R 3rd, et al. Sickle cell trait, rhabdomyolysis, and mortality among U.S. Army Soldiers. N Engl J Med. 2016;375:435–42.
Turgeon ML. Clinical hematology theory & procedures, 6th edition, Kindle Edition: 318–320, 2018.
Detemmerman L, Olivier S, Bours V, et al. Innovative PCR without DNA extraction for African sickle cell disease diagnosis. Hematology. 2018;23:181–6.
Akinyanju OO, Disu RF, Akinde JA, Adewole TA, Otaigbe AI, Emuveyan EE. Initiation of prenatal diagnosis of sickle-cell disorders in Africa. Prenat Diagn. 1999;19:299–304.
El-Beshlawy A, El-Ghamrawy M. Recent trends in treatment of thalassemia. Blood Cells Mol Dis. 2019;76:53–8.
Weatherall DJ. The definition and epidemiology of non-transfusion-dependent thalassemia. Blood Rev. 2012;26:S3–6.
Martin A, Thompson AA. Thalassemias. Pediatr Clin N Am. 2013;60:1383–91.
Sabath DE. Molecular diagnosis of thalassemias and hemoglobinopathies: an ACLPS critical review. Am J Clin Pathol. 2017;148:6–15.
Taher AT, Weatherall DJ, Cappellini MD. Thalassaemia. Lancet. 2018;391:155–67.
Brancaleoni V, Di Pierro E, Motta I, et al. Laboratory diagnosis of thalassemia. Int J Lab Hematol. 2016;38:32–40.
Charles Ming-Lok Chan EP-TL. Clinical applications of molecular technologies in hematology. J Med Diagn Methods. 2013;02
Sankaran VG, Weiss MJ. Anemia: progress in molecular mechanisms and therapies. Nat Med. 2015;21:221–30.
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Zuo, Z., Yin, C.C., Zhang, L., Wang, L., Ren, Z. (2021). Blood Disorders. In: Pan, S., Tang, J. (eds) Clinical Molecular Diagnostics. Springer, Singapore. https://doi.org/10.1007/978-981-16-1037-0_39
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DOI: https://doi.org/10.1007/978-981-16-1037-0_39
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