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๐Ÿค’ Common Diseases

Common Diseases

Genetic Disorders

Genetic disorders are diseases caused by abnormalities in an individual's DNA. They can be inherited from parents or arise from new mutations. These disorders are broadly classified based on whether the mutation affects a single gene (Mendelian/monogenic disorders) or entire chromosomes (chromosomal disorders).

Disorder Inheritance Features
Phenylketonuria (PKU) Autosomal recessive Deficiency of the enzyme phenylalanine hydroxylase; the amino acid phenylalanine accumulates in blood and brain, causing mental retardation if untreated. Early detection through newborn screening and a phenylalanine-restricted diet can prevent brain damage.
Alkaptonuria Autosomal recessive Deficiency of homogentisic acid oxidase; homogentisic acid accumulates and is excreted in urine, which turns dark on standing (a classic diagnostic sign). Long-term accumulation leads to joint problems (ochronosis).
Albinism Autosomal recessive Deficiency of the enzyme tyrosinase, which is needed for melanin production; results in complete absence of melanin pigment in skin, hair, and eyes. Affected individuals are highly sensitive to UV radiation.
Thalassemia Autosomal recessive Defective synthesis of hemoglobin chains; ฮฑ-thalassemia involves genes on chromosome 16, while ฮฒ-thalassemia involves genes on chromosome 11. Leads to hemolytic anemia and often requires regular blood transfusions.
G6PD deficiency X-linked recessive Deficiency of glucose-6-phosphate dehydrogenase; RBCs become vulnerable to oxidative stress, leading to hemolytic anemia โ€” particularly triggered by certain drugs, infections, or foods (like fava beans).
Duchenne Muscular Dystrophy X-linked recessive Deficiency of the protein dystrophin; causes progressive degeneration and weakening of skeletal muscles, typically appearing in early childhood in boys.

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