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Medicine

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Hematology

Question
10 out of 10
 

Regarding Fanconi anaemia wrong statement is


A Autosome Dominant

B Bone marrow show atrophy
C Usually normocytic/macrocytic anemia

D All of the above

Ans. A

Autosome Dominant

Fanconi anemia (FA) is

1. It is a genetic disease that affects children and adults.

2. Autosomal recessive

3. Because of the failure of hematologic components to develop - leukocytes, red blood cells and platelets

Prognosis

Many patients eventually develop AML. Older patients are extremely likely to develop head and neck, esophageal, gastrointestinal, vulvar and anal cancers.

Hematological abnormalities

1. Symptoms appear progressively and often lead to complete bone marrow (BM) failure.

2. While at birth blood count is usually normal, macrocytosis /non-megaloblastic anemia, is the first detected abnormality,

3. Within the next 10 years, over 50% of patients presenting haematological abnormalities will have developed pancytopenia,

4. The deficiencies cause increase risk of hemorrhage and recurrent infections, respectively.

Treatment

1. The first line of therapy is hematopoietic stem cell transplantation.

Approximately 50-75% of patients respond to androgens, which are used when transplantation is not an option.

Hematology Flashcard List

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