THALASSEMIA Flashcards
1
Q
are diverse group of inherited disorders
A
Thalassemia
2
Q
- Genetic mutations affecting the globin chain component of the Hb tetramer
A
Thalassemia
3
Q
often referred to as Cooley’s anemia
A
Beta thalassemia
4
Q
published a paper
A
Whipple and Bradford
5
Q
Outline the detailed autopsy studies of children who died of this disorder
A
Whipple and Bradford
6
Q
Results from a reduced or absent synthesis of one or more of the globin chains of hemoglobin
A
THALASSEMIA
7
Q
- Mutations affecting alpha or Beta-globin gene are ________
A
- THALASSEMIA
8
Q
- DECREASE OR ABSENT SYNTHESIS
A
THALASSEMIA
9
Q
Due to mutations in the promoter region or initiation codon of a globin gene, or to mutations in polyadenylation sites that reduce mRNA stability
A
- Reduced or Absent Transcription of (mRNA)
10
Q
- Mutations that add or remove splice sited, resulting in no globin chian or altered globin chain production
A
- mRNA Processing errors
11
Q
- Mutations that change the codon reading frame (frameshift mutations), substitute an incorrect amino acid(missense mutation), add a stop codon(nonsense mutations), remove a stop codon
A
- Translation errors
12
Q
- No production of the corresponding globin chains
A
- Deletion of one or more globin genes
13
Q
The clinical manifestations of
thalassemia stem from
A
- Reduced or Absent production
of a particular globin chain - Unequal production of the
alpha and Beta globin chains
14
Q
- Unpaired, excess alpha chains precipitate in developing erythroid precursors forming inclusion bodies
A
- BETA THALASSEMIA
15
Q
Asymptomatic during fetal life and through approximately _____________ of age
A
Beta Thalassemia - 6 months
