Diamond-Blackfan Anemia Medical Definition
Diamond-Blackfan anemia: A genetic condition affecting the bone marrow that leads to anemia (low numbers of red blood cells) and often, birth defects. It affects five to 10 out of every million babies born in the U.S. A number of genetic mutations have been identified that can cause Diamond-Blackfan anemia, and it is inherited in an autosomal dominant pattern, meaning that only one copy of the defective gene is needed to cause the disorder. In about 45% of cases, those affected inherit a defective gene from one parent. In the remaining cases, a new mutation (change in the gene) occurs in people who do not have the condition in their family.
Symptoms and signs of Diamond-Blackfan anemia usually are seen during the first year of life and relate to the anemia and shortage of oxygen delivery to tissues from the low numbers of red blood cells. These symptoms include pallor, fatigue, and weakness. People with this disorder are at increased risk for developing myelodysplastic syndrome, another bone marrow disorder, acute myeloid leukemia (AML), and a type of bone cancer known as osteosarcoma. The birth defects that can accompany the bone marrow disorders are seen in about half of those affected and can vary in severity. Associated birth defects can include small head size (microcephaly); wide-set eyes (hypertelorism); droopy eyelids (ptosis); a low frontal hairline; a broad, flat bridge of the nose; small, low-set ears; and small lower jaw (micrognathia). Cleft palate and/or cleft lip may also be present. Slow growth, eye problems, and kidney problems are sometimes associated with the condition. Red blood cell transfusions and corticosteroid medications are the main treatments for Diamond-Blackfan anemia. Stem cell transplants have been performed successfully in some children with the condition.
REFERENCE:
United States. Genetics Home Reference. “Diamond-Blackfan Anemia.” Feb. 2012.
Read Also:
- Diaper rash
An inflammatory reaction localized to the area of skin usually covered by the diaper. It can have many causes, including infections (yeast, bacterial, or viral), friction irritation, chemical allergies (perfumes, soaps), sweat, decomposed urine, and plugged sweat glands. Most diaper rash problems can be solved by cleansing the skin with nonperfumed, gentle products; changing diapers […]
- Diaper rash, yeast
Diaper rash, yeast: Infection in the diaper area caused by a yeast formerly called Monilia and now called Candida. These organisms are part of the germs normally found in various parts of the body and ordinarily do not cause any symptoms. Certain conditions, such as antibiotic use or excessive moisture, may upset the balance of […]
- Diaphragm (contraceptive)
Diaphragm (contraceptive): A barrier method of contraception that is available by prescription only and must be sized by a health professional to achieve a proper fit. The diaphragm has a dual mechanism to prevent a pregnancy. A dome-shaped rubber disk with a flexible rim covers the cervix so sperm cannot reach the uterus and a […]
- Diaphragm (muscle)
Diaphragm (muscle): The muscle that separates the chest (thoracic) cavity from the abdomen. The diaphragm is the main muscle of respiration. Contraction of the diaphragm muscle expands the lungs during inspiration when one is breathing air in. We rely heavily on the diaphragm for our respiratory function so that when the diaphragm is impaired, it […]
- Diaphragm pacing
Diaphragm pacing: A procedure to help patients with spinal cord injuries to breathe. Their breathing is helped by setting the respiratory rate by electrical stimulation (pacing) of the phrenic nerve using electrodes surgically implanted into the diaphragm muscle that is innervated by the nerve.