Knowledge Check • The Blood Project

Match the number of alpha gene deletions with the clinical phenotype

2 genes

3 genes

1 gene

Carrier

HbH disease

Thal trait

Correct! Sorry, Incorrect.

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Chromosome 16

ATMDS involves:

a

Cis mutations

b

Trans mutations

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ATRX

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