Fanconi's Anemia and Congenital Aplastic Anemia

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Questions and Answers

What is the primary distinction between acquired and congenital aplastic anemia?

Acquired anemia is more common than congenital anemia. (correct)

Congenital anemia is often diagnosed later in life.

Acquired anemia is always hereditary.

Congenital anemia occurs due to exposure to chemicals.

Which of the following factors is NOT associated with acquired aplastic anemia?

Chemical exposure

Exposure to radiation

Infections

Genetic mutations (correct)

What characterizes Fanconi's Anemia?

It is an inherited condition that affects both blood and physical characteristics. (correct)

It is not associated with any genetic mutations.

It results solely from environmental factors.

It is the most common type of aplastic anemia.

How many genes are known to be associated with the mutations causing Fanconi's Anemia?

At least fifteen (A) Signup and view all the answers

Which statement correctly describes the diagnosis of Fanconi's Anemia?

It is identified using genetic testing to detect specific mutations. (A) Signup and view all the answers

What distinguishes Fanconi's anemia from acquired aplastic anemia?

Fanconi's anemia is a congenital disorder present since birth. (D) Signup and view all the answers

What is the primary genetic mutation associated with Fanconi's anemia?

Malfunction in the repair of DNA. (D) Signup and view all the answers

Which of the following clinical features is commonly associated with Fanconi's anemia?

Skeletal defects such as thumb aplasia (A) Signup and view all the answers

Which laboratory finding is most indicative of Fanconi's anemia?

Macrocytic anemia with thrombocytopenia (C) Signup and view all the answers

What test can be used to confirm the diagnosis of Fanconi's anemia?

Chromosomal breakage analysis. (B) Signup and view all the answers

What is a common misconception regarding the symptoms of Fanconi's anemia?

The symptoms are usually severe from birth. (B) Signup and view all the answers

How does Fanconi's anemia affect fetal hemoglobin levels?

They are increased. (D) Signup and view all the answers

Which physical characteristic is NOT typically associated with Fanconi's anemia?

Long limbs (A) Signup and view all the answers

What is a common characteristic of Diamond-Blackfan Anemia in contrast to acquired aplastic anemia?

It is associated with normal white blood cell counts. (D) Signup and view all the answers

Which of the following best describes the etiology of Diamond-Blackfan Anemia?

The mode of inheritance remains uncertain, with both recessive and dominant patterns noted. (A) Signup and view all the answers

Which physical abnormality is most commonly associated with Fanconi's Anemia?

Short stature. (C) Signup and view all the answers

What symptom differentiates Diamond-Blackfan Anemia from other forms of anemia?

Decreased reticulocyte count. (C) Signup and view all the answers

In the diagnosis of Fanconi's Anemia, which laboratory finding is expected?

Normocellular bone marrow with erythroid hypoplasia. (A) Signup and view all the answers

Which genetic factor contributes significantly to the variability of Fanconi's Anemia?

Incomplete penetrance of the involved genes. (D) Signup and view all the answers

What potential complication arises from long-term transfusion therapy in patients with Diamond-Blackfan Anemia?

Iron overload or hemosiderosis. (D) Signup and view all the answers

What is a significant late complication associated with Diamond-Blackfan Anemia?

Increased incidence of Acute Myelogenous Leukemia (AML). (A) Signup and view all the answers

Study Notes

Fanconi’s Anemia

A congenital disorder of hematopoietic stem cells that results in aplasia of all cell lines (WBCS, RBCS, & PLTS)
Diagnosed equally in boys and girls and can be found in all ethnic groups
Characterized by defective DNA repair and numerous chromosomal abnormalities
Increased levels of Hemoglobin F
Bone marrow may display a macrocytic process with thrombocytopenia and leukopenia, developing before red cell depletion
Physical characteristics: Short statue, abnormal thumb, skin abnormalities, "Café au lait" spots, abnormal eye alignment
Molecular and Cygenetic level: Increased chromosomal breakage and defective DNA repair

Congenital Aplastic Anemia

Hematologic abnormalities present since birth
Pancytopenia that progresses with age, usually symptomatic within 5-10 years after birth
Anemia (normochromic and normocytic; may be macrocytic) and thrombocytopenia usually precedes leukopenia
Increased expression of antigen on red cells, increased fetal hemoglobin (HbF) levels, and elevated erythropoietin levels (EPO)
Bone marrow may be originally normocellular or hypercellular, but over time hypoplasia develops

Aplastic Anemia

Bone marrow is unable to respond to developing peripheral blood cytopenias by increased hematopoiesis, classified as refractory or regenerative
Divided into Acquired (more common) or Congenital (hereditary)
Acquired aplastic anemia is secondary, resulting from exposure to chemicals, drugs, irradiation, or infection
Hereditary aplastic anemia is rare, with the most common group designated as Fanconi's Anemia

Fanconi's Anemia (FA)

Named for Swiss pediatrician Dr. Guido Fanconi
Rare autosomal recessive disorder affecting physical characteristics and bone marrow development; rare inherited pancytopenia
Defects in one of at least 15 different genes can cause FA
Shows both dominant and recessive inheritance patterns
Congenital hypoplastic disorder usually diagnosed in early infancy
Several physical abnormalities observed: Short stature, low birth weight, head and facial abnormalities
Bone marrow usually lacking in red cell precursors (ONLY) with a slightly decreased number of leukocytes
Increased Hemoglobin F; Average patient hemoglobin is 70 g/L
Treatment includes steroids and transfusional support with careful attention to the possibility of hemosiderosis

Diamond-Blackfan Anemia

Chronic, moderate to severe anemia that usually manifests early in infancy
Associated with normal numbers of white cells and platelets
Decreased reticulocyte count
Bone marrow examination shows a normocellular bone marrow with erythroid hypoplasia; Usually normal or increased numbers of proerythroblasts with decreased mature stages in erythroid cells
Minor congenital abnormalities of the head and upper limbs may be present, similar to Fanconi's anemia
Unclear mode of inheritance; Both recessive and dominant inheritance patterns have been described
Most patients respond to steroids and are able to maintain adequate hemoglobin levels
Some patients may become transfusion dependent and develop possible iron overload from long-term transfusion therapy
Bone marrow transplantation is curative
Increased incidence of Acute Myelogenous Leukemia (AML) late in the course of the disease

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Description

Explore the conditions of Fanconi's Anemia and Congenital Aplastic Anemia in this informative quiz. Learn about their characteristics, symptoms, and molecular aspects. Test your knowledge of these hematologic disorders and their impact on health.