Human Genetics Flashcards

1
Q

Which chromosome contains the allele for the a-globin cluster?

A

16

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2
Q

Which chromosome contains the allele for the b-globin cluster?

A

11

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3
Q

Describe sickle cell anaemia.

A

Qualitative Hemoglobinopathies.
Autosomal Recessive.
Affects the b chain, characterized by amino acid substitutions.
In deoxygenated environments, the RBC polymerized.
Sickle, rigid, stuck in small vessels

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4
Q

What is the genetic mutation in sickle cell disease?

A

HBB c.20A>T p.Glu6Val

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5
Q

What is thalassemia?

A

Are hereditary abnormalities of haemoglobin production in which the primary difficulty is a quantitative deficiency of either the a or b globins.

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6
Q

Describe the pathogenicity of a-Thalassemia.

A

A mutation in the alpha genes on chromosome 11.
1- carrier (asym)
2- a thalassemia minor (asym)
3- HBH disease (sym)
4- Hb Barts (fatal- Hydrops fetalis)

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7
Q

Describe the pathogenicity of b-Thalassemia.

A

Deficient production of β-globin chains leads to the accumulation of excess α-globin tetramers in erythroid cells.
Free α-globin protein is unstable and generates cytotoxic reactive oxidant species and cellular precipitates that impair the
maturation and viability of red-cell precursors, resulting in ineffective erythropoiesis and premature hemolysis of circulating
red cell.

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