Last Updated : 2/15/2010
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Dr. Ira Shah
What is Fanconi's anemia?
Fanconi anemia is an inherited anemia that leads to bone marrow failure (

Aplastic anemia

). The bone marrow is the fluid within the bones that produces the cells in the blood. With failure of bone marrow production, the various cells in the blood are not formed and patients suffer from infections, spontaneous bleeds and low hemoglobin.

What is aplastic anemia?
Aplastic anemia is a condition that leads to bone marrow failure. Aplastic anemia can occur due to various causes such as drugs, infections, radiation, toxic chemicals and due to genetic disorders such as Fanconi anemia. Why patients with Fanconi anemia develop bone marrow failure is still not known.

What is Fanconi syndrome


Fanconi syndrome is different from Fanconi Anemia. Fanconi syndrome leads to kidney problems and problems of acidification known as Renal Tubular Acidosis (RTA). Fanconi anemia is a blood disorder.

What are signs and symptoms of Fanconi's anemia?

Patients with Fanconi's anemia

may have noticeable defects at birth and can be diagnosed early. Some patients are free from visible defects and are diagnosed when the bone marrow ultimately fails.
Common birth defects seen with Fanconi anemia are short stature, thumb and arms abnormality (missing, misshapen or extra thumb, incompletely developed or missing forearm bone). These conditions in medical terminology are described as absent, hypoplastic or bifid thumb and hypoplastic or absent radii respectively. In addition, parents may have skeletal abnormalities such as congenital hip abnormalities, spine abnormalities, scoliosis and rib defects.
Kidney defects in form of missing kidney, rotated or misshapen kidneys or fused kidneys can be seen.
Other abnormalities seen are skin pigmentation (Cafe au lait spot), small head (microcephaly), small eyes (microphthalmia), learning disabilities, failure to gain weight, small reproductive organs (hypogonadism) in males and heart defects.
Most of the children present with anemia or spontaneous bleeding and blood tests reveal low red cells, white cells or platelets which may be due to bone marrow failure.

What is the
diagnosis of Fanconi anemia

A bone marrow examination reveals aplastic anemia. The most definitive
test for Fanconi's anemia
is chromosome breakage test where the patient's blood is collected and lymphocytes (type of white cells) from the blood are combined with chemical agents such as diepoxybutane. In the laboratory, the chromosomes within the Fanconi anemia cells break and rearrange whereas chromosomes in normal cells are stable at same dose.

Contributor Information and Disclosures Dr. Ira Shah
Consultant Pediatrician, B.J.Wadia Hospital for Children, Mumbai, India

First Created : 2/6/2001
Contributor Information and Disclosures

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