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Types of Genetic disorders

  Types of Genetic disorders Genetic disorders can be grouped into two types: Mendelian Disorders Mendelian disorders are mainly determined by alteration or mutation in the single gene. These disorders are transmitted to the offspring on the same lines as we have studied in the principle of inheritance. Most common and prevalent Mendelian disorders are Hemophilia, Cystic fibrosis, Sickle-cell anemia, Colour blindness, Phenylketonuria, Thalassemia, etc. It is evident that this X-linked recessive trait shows transmission from carrier female to male progeny. Examples: Name Genetic Trait Cause Effects Inheritance pattern Sickle cell anaemia Autosome-linked recessive A single point mutation in the beta-globin chain of haemoglobin Anaemia Offsprings may get the disease when both the parents are a carrier (heterozygote) Thalassemia Autosome-linked recessive Mutation in the genes HBA1 and HBA2 present on the chromosome 16 Formation of abnormal haemoglobin molecule resulting in anaemia Offsprin