Heteroplasty and Genetics Quiz: Chronic Myeloid Leukemia and Hemophilia A

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Questions and Answers

Which gene/defect is associated with Hemochromatosis?

IX deficiency

Factor VIII deficiency

Philadelphia chromosome

NADPH Oxidase deficiency (correct)

What is the inheritance pattern of Hemochromatosis?

X-Linked Dominant

Autosomal Recessive (correct)

Autosomal Dominant

X-Linked Recessive

What is the main clinical feature of Hemochromatosis?

Hemorrhage

Susceptibility to infections

Failure of phagocytes

Accumulation of abnormal, pigmented, iron-protein aggregates (correct)

Which population has an incidence of Hemochromatosis at around 0.3%?

Caucasoid population Signup and view all the answers

What leads to the enhanced absorption of dietary iron in Hemochromatosis?

No formation of peroxides and superoxides Signup and view all the answers

What is the gender difference in the susceptibility to Hemochromatosis?

Women are less affected due to increased iron loss through menstruation Signup and view all the answers

What is the inheritance pattern of Hemochromatosis?

Autosomal dominant Signup and view all the answers

Which of the following clinical features is associated with Hemochromatosis?

Skin pigmentation and arthritis Signup and view all the answers

What gene/defect is commonly associated with Hemochromatosis?

LDL receptor Signup and view all the answers

In Hemochromatosis, what is the effect of null mutations in the associated gene?

Milder form of the disease Signup and view all the answers

Which of the following diseases has maternal transmission and heteroplasty?

Myoclonic Epilepsy Signup and view all the answers

What is a common symptom seen in individuals with Hemochromatosis?

Fractures in bones Signup and view all the answers

Which type of inheritance is associated with Glucose 6-phosphate dehydrogenase deficiency?

X-linked recessive Signup and view all the answers

What is a common trigger for anemia in individuals with Glucose 6-phosphate dehydrogenase deficiency?

Fava beans Signup and view all the answers

Which gene is associated with Huntington Disease?

Huntingtin gene Signup and view all the answers

What type of genetic condition characterizes Marfan Syndrome?

Autosomal dominant Signup and view all the answers

What is a common clinical feature of Cri du Chat Syndrome?

Microcephaly Signup and view all the answers

Which type of chromosome abnormality is associated with Cri du Chat Syndrome?

Deletion Signup and view all the answers

Study Notes

Chronic Myeloid Leukemia

Characterized by a specific chromosomal abnormality called the Philadelphia (Ph) chromosome, resulting from a translocation between chromosomes 9 and 22
A somatic mutation, an uncommon type of cancer of the bone marrow

Hemophilia A (Factor VIII Deficiency)

Caused by a deficiency of Factor VIII
X-Linked Recessive inheritance pattern
Clinical features include hemorrhage, hematuria, hemarthroses, and prolonged PTT

Hemophilia B (Factor IX Deficiency)

Caused by a deficiency of Factor IX
X-Linked Recessive inheritance pattern
Clinical features include hemorrhage, hematuria, hemarthroses, and prolonged PTT, which are milder than those of Hemophilia A

Chronic Granulomatous Disease

Caused by a deficiency of NADPH Oxidase, leading to a lack of peroxides and superoxides, and no oxidative burst in phagocytes
Inheritance pattern is usually X-Linked
Clinical features include susceptibility to infections, especially Staph Aureus and Aspergillus spp, with normal B and T cells

Hemochromatosis

Caused by an unknown gene on the short arm of chromosome 6
Autosomal recessive inheritance pattern
Clinical features include enhanced absorption of dietary iron, accumulation of hemosiderin in visceral organs, and symptoms such as cirrhosis, cardiomyopathy, diabetes, skin pigmentation, and arthritis

Hypercholesterolemia

Caused by a deficiency of the LDL receptor
Autosomal dominant inheritance pattern, with haploinsufficiency
Clinical features include impaired uptake of LDL, elevated levels of LDL cholesterol, and increased risk of cardiovascular disease and stroke

Myoclonic Epilepsy (MERRF)

Caused by a mutation in the tRNAlys gene of mitochondrial DNA
Maternal transmission and heteroplasty inheritance pattern
Clinical features include myopathy, dementia, myoclonic seizures, ataxia, and deafness, with age of onset varying depending on the fraction of mutant mitochondrial DNA inherited

Osteogenesis Imperfecta

Caused by mutations in the genes encoding the α1 or α2 chains of type I collagen
Autosomal dominant inheritance pattern, with null mutations producing haploinsufficiency and missense mutations producing a dominant negative effect
Clinical features include deformed, undermineralized bones that are prone to frequent fracture, with neurological symptoms being rare

Glucose 6-Phosphate Dehydrogenase Deficiency

Caused by a deficiency of glucose 6-phosphate dehydrogenase
X-Linked recessive inheritance pattern, prominent among individuals of Mediterranean and African descent
Clinical features include anemia induced by oxidizing drugs, sulfonamide antibiotics, sulfones, and certain foods

Huntington Disease

Caused by a CAG repeat in the Huntingtin gene (HD)
Autosomal dominant inheritance pattern, showing anticipation
Clinical features include progressive motor, cognitive, and psychiatric abnormalities, with chorea being observed in 90% of patients

Marfan Syndrome

Caused by a mutation in the Fibrillin-1 gene (FBN1)
Autosomal dominant inheritance pattern, with a dominant negative effect
Clinical features include abnormalities of the skeleton, heart, pulmonary system, skin, and joints, with a frequent cause of death being congestive heart failure

Cri du Chat Syndrome

Caused by a deletion of the long arm of chromosome 5 (5p-)
Autosomal inheritance pattern
Clinical features include a characteristic "cry of the cat", severe mental retardation, microcephaly, and a cat-like cry

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Description

Test your knowledge on Chronic Myeloid Leukemia and Hemophilia A, including gene defects, inheritance patterns, clinical features, and chromosomal abnormalities like the Philadelphia chromosome. Learn about the factors contributing to these diseases.