You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information.
What is A patient presents with mild jaundice. On examination he had splenomegaly and his USG abdomen showed gallstones. Peripheral smear showed generalized red cell targeting and occasional cells with angular crystals of hemoglobin C. Formation of hemoglobin C requires substitution of glutamic acid with which of the following amino acid? and explain in detail?
Hemoglobin C is formed by a single amino acid substitution with lysine for glutamine at codon 6. Patients with homozygous hemoglobin C presents with mild hemolytic anemia with splenomegaly, mild jaundice, and pigment (calcium bilirubinate) gallstones. The peripheral blood smear shows generalized red cell targeting and occasional cells with angular crystals of hemoglobin C. Persons heterozygous for hemoglobin C are clinically normal. Ref: Linker C.A., Damon L.E., Damon L.E., Andreadis C. (2013). Chapter 13. Blood Disorders. In M.A. Papadakis, S.J. McPhee, M.W. Rabow (Eds),CURRENT Medical Diagnosis & Treatment 2013.