Genetic Disorders and Hemoglobin Dysfunction Quiz

Albinism is a genetic disorder resulting in the absence of melanin, causing a lack of pigmentation in the skin, hair, and eyes.

Hemoglobin F is the predominant type of hemoglobin in fetal blood circulation, facilitating oxygen transfer from the mother to the developing fetus.

Hemophilia is characterized by impaired blood clotting, leading to prolonged bleeding; increased blood clotting is not a symptom.

Marfan syndrome is characterized by various symptoms, including joint hypermobility, tall stature, and aortic abnormalities.

Ehlers-Danlos syndrome is characterized by joint laxity, skin hyperextensibility, and other connective tissue abnormalities.

Sickle cell anemia is caused by a point mutation in the hemoglobin gene, leading to the production of abnormal hemoglobin.

Down syndrome does not involve a tendency to clot blood; common symptoms include intellectual disabilities, distinctive facial features, and developmental delays.

Duchenne muscular dystrophy is caused by an X-linked recessive mutation in the DMD gene, leading to progressive muscle degeneration.

Down syndrome is caused by the presence of an extra copy (trisomy) of chromosome 21, resulting in developmental and intellectual challenges.

Phenylketonuria (PKU) is a genetic disorder where individuals lack the enzyme needed to break down phenylalanine, leading to its accumulation and potential cognitive impairment.

Huntington's disease is primarily caused by a dominant genetic mutation in the HTT gene, leading to progressive neurological degeneration.

Hemoglobin S, a variant associated with sickle cell anemia, provides resistance to malaria, as the malaria parasite cannot thrive in individuals with this hemoglobin variant.

Sickle cell anemia primarily manifests its effects in the spleen, leading to increased susceptibility to infections and anemia.

Thalassemia major is characterized by severe anemia due to impaired production of hemoglobin, leading to fatigue, weakness, and other related symptoms.

Cystic fibrosis is primarily caused by mutations in the CFTR gene, resulting in the production of thick and sticky mucus that affects various organs.