Knowledge Check

Match the number of alpha gene deletions with the clinical phenotype


1 gene
3 genes
2 genes
HbH disease
Thal trait
Carrier
Correct! Sorry, Incorrect.

ATMDS involves:

a
Cis mutations
b
Trans mutations

Which of the following is/are true of ATX (more than one answer may apply):

a
It is a membrane protein
b
It is X-linked
c
It is involved in chromatin remodeling
d
Mutations in ATRX have been implicated in a severe, nonprogressive type of X-linked mental retardation

True or false: ATRX mutations are typically associated with cytogenetic changes.

a
True
b
False

Which of the following is/are true of ATMDS (more than one answer may apply):

a
It is more common in women
b
As the name implies, it is always associated with MDS
c
The level of alpha gene expression tends to be much lower than seen in inherited alpha thalassemia
d
It is associated with microcytosis, which is otherwise rare in MDS
e
It is associated with a poorer prognosis than MDS without acquired thalassemia
Prev
 1 / 0 
Next