PPT- -GLOBIN MUTATIONS AND SICKLE CELL DISORDER (SCD)

RESTRICTION FRAGMENT LENGTH POLYMORPHISMS RFLP GLOBIN MUTATIONS AND SICKLE CELL DISORDER SCD Well over 700 abnormal forms of haemoglobin have been identified and characterised to some extent on the basis of the mutation responsible andor clinical consequences . Changes in . DNA. that affect genetic information. Gene Mutations. Point Mutations – changes . in one or a few. nucleotides. Substitution. THE FAT CAT ATE THE RAT. THE FAT HAT ATE THE RAT. Insertion. Mutations. Any unpredictable change in the structure or amount of DNA of an organism is called a . mutation. . . Most . mutations occur in . somatic (body) cells. and are not passed from one generation to the next. . b. d. g. a. a. Chromosome 16. Chromosome 11. 25%. 25%. a. a. b. d. g. 25%. 25%. 48%. 48%. 1.5%. 0.5%. 1.5%. 0.5%. Hemoglobin synthesis. a. a. a. a. a. a. b. g. d. b. d. g. HbA. HbF. HbA. 2. 98%. ~1%. Katie Coltharp and Mariela Saenz. Names of Disorder. HbS. disease. Hemoglobin S disease. Hemoglobin SS disease. Sickling. disorder due to hemoglobin S. Sickle cell disease (broad term). Sickle cell disorders (broad group of conditions). and Function. Chapter 3: . Globular . Proteins. Part . 2. II. GLOBULAR HEMEPROTEINS. E. Allosteric effects. Binding . of . CO. 2. : . Most . of the . CO. 2. produced . in . metabolism is hydrated . and transported as bicarbonate . April 24, 2017. What is SSD?. SSD is an autosomal recessive disorder of a point mutation in the beta globulin chain in hemoglobin.. SSD is an autosomal recessive disorder of a point mutation in the beta globulin chain in hemoglobin.. Sickle Cell Disease. Andrew Infosino, MD. UCSF Department of Anesthesia. And Perioperative Care. Updated 10/2017. What is Sickle Cell Disease?. Heterogenous. group of inherited disorders of the β hemoglobin molecule. . W. ith . Sickle Cell Disease. Andrew Infosino, MD. UCSF Department of Anesthesia. And Perioperative Care. What is Sickle Cell Disease?. Heterogenous. group of inherited disorders of the β hemoglobin molecule. . Learning Objectives. ▪ . Hemoglobinopathies. (Abnormal . Hb. . variants). ▪. Different . Hemoglobin . combinations-. Nr. and . Abn. •. Sickle . cell trait is the . heterozygous form . of the . . Sickle cell is a red blood disorder that can cause red blood cell to change form and cause lots of pain. Unfortunately this disorder can not be cured but can be stabled with the right treatments. In 1973 the average lifespan of a person with sickle cell was only 14 years. 1- what is the mode of inheritance in the vast majority f spherocytosis cases?. Autosomal dominant. Autosomal recessive. X-linked dominant. X linked recessive. 2- The amino acid present at the sixth position of the normal alpha-globin chain is replaced by which one of the following amino acids in sickle cell disease?. MB;BS(Ilorin), FWACP(. Paed. ). Outline. Intro /def. Normal haemoglobin structure / function. Classification of haemoglobinopathies . Structural Hb Variants. Thalassaemias. Epidemiology. Clinical features. Human Genetic Disorders. Can be recessive disorders. In some cases, can be dominant disorders. We are going to look at some examples of some genetic disorders. . NO TEST this chapter. Your test instead will be:. . Assist. Prof. . Dr.Maysem. . Mouayad. . Alwash. . Note:. The . thalassaemias. are classified into . α. -, . β. -, . δβ. -, . γδβ. -, . δ. -, . γ. - and . εγδβ. -thalassaemias, according to the type of globin chain(s).