PDF-h globin pA

125 4865 bp BsrS2 SV40 pA pMB1 ori hCMV enh hCMV prom EM7 hEF1HTLV prom hSMAD4 SgfI 6 PvuI 7 Psp1406I 203 HindIII 245 Bsu36I 291 NgoMIV 441 AgeI 552 BstEII 555 NcoI 560 XcmI 63. α. -chains in . β-. thalassemia. G. Vassilopoulos MD PhD. Associate Professor, Hematology and Internal Medicineci. U. of Thessalia Medical School. Principal. Investigator, BRFAA. Division of Genetics & Gene Therapy. - 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 and/or clinical consequences. . 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 . Thalassemia. Beta-thalassaemia is a global disease - most prevalent in South Asia, the Far East, the Middle East, and Mediterranean countries. . Distribution is attributed largely to natural selection of heterozygote carriers because of protection against falciparum malaria. . Learning Objectives. ▪ . Hemoglobinopathies. (Abnormal . Hb. . variants). ▪. Different . Hemoglobin . combinations-. Nr. and . Abn. •. Sickle . cell trait is the . heterozygous form . of the . : are genetic(AR) disorders in . globin. chain production. . In individuals with β. -thalassemia. , there is either: . complete. absence of β-globin gene production . (β. 0. -thalassemia). Patel. ASSISTANT PROFESSOR. BIOCHEMISTRY, GMCS. NORMAL ADULT HUMAN HEMOGLOBIN. Structure and Function of . Hb. Oxygen dissociation curve. P50 ???. T & R form of Hb. Structure and Function of . Hb. MB;BS(Ilorin), FWACP(. Paed. ). Outline. Intro /def. Normal haemoglobin structure / function. Classification of haemoglobinopathies . Structural Hb Variants. Thalassaemias. Epidemiology. Clinical features. THALASSEMIA SYNDROMES Info Sheet 1800ROSWELL (1  8007679355) | RoswellPark.org UNDERSTANDING HEMOGLOBIN This important protein in your red blood cells carries oxygen F.I.B.M.S (Int. Medicine) , F.I.B.M.S (Hematology). DEFINITION. Thalassemias . are inherited blood disorders characterized by defect . in the rate of synthesis of one . of the . globin chains.. Resultant imbalance of globin chain production may cause ineffective . مؤيد علوش. Introduction. THE HAEMOGLOBIN MOLECULE. Human . haemoglobin. is formed from two pairs of . globin chains . each with a . haem. . group attached.. Seven . different globin . chains are . . 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). of . haemoglobin. Ass. . Prof. . . Abeer. . Anwer. Ahmed. Normal adult blood contains three types of . haemoglobin. . Hb. . A . . Hb. . F . . Hb. . A2. Structure . Alexandra Childs . and . Ryan Edwards. Beta . Globin. Chromosome position: 11p15.5. DNA nucleotides position: 5246696..5248301. To the left of this gene in HBD or Delta . globin. and to the right of this gene is OR51v1 or Olfactory Receptor.