Diamond-Blackfan Anemia is a disorder that mainly affects the bone marrow. People with DBA often have physical abnormalities affecting different parts of the body.
The leading function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which bring oxygen to the body’s tissues. The results to shortage of red blood cells usually becomes clear during the first year of life.
People with Diamond-Blackfan Anemia have a high chance of several serious complications related to their malfunctioning bone marrow.
They have a higher-than-average chance of developing Myelodysplastic Syndrome (MDS), is a disorder in which young blood cells fail to develop normally. People with Diamond-Blackfan Anemia also have an increased risk of developing a bone marrow cancer known as Acute Myeloid Leukemia (AML), a type of bone cancer called Osteosarcoma, and possibly other cancers.
Normally half of individuals with Diamond-Blackfan Anemia have physical appearances.
They may usually have a small head size (microcephaly) and a low frontal hairline, along with distinctive facial features.
These features include:
- wide-set eyes (hypertelorism)
- droopy eyelids (ptosis)
- broad, flat bridge of the nose
- small, low-set ears
- small lower jaw (micrognathia)
- opening of the mouth (cleft palate)
- a split in the upper lip (cleft lip)
- short, webbed neck
- shoulder blades that are smaller and higher than usual
- abnormalities of their hands
- most commonly malformed or absent thumbs
People with DBA have symptoms common to all other types of anemia. These symptoms include:
- Pale skin
- Rapid heartbeat
- Heart murmur
Diagnosis of Diamond-Blackfan Anemia
A diagnosis of DBA typically begins when your child’s doctor discover signs or symptoms of anemia during a routine exam or after a routine blood test. The two most important tests for diagnosing DBA are blood sample testing and bone marrow testing.
Results needed to make the diagnosis includes:
- Anemia before 1 year of age
- Blood sample showing that the type of anemia is macrocytic, which means red blood cells are larger than normal
- Normal number of white blood cells and platelets in the blood sample
- Not enough reticulocytes, which are newly made red blood cells
- Bone marrow sample showing few cells that will develop into red blood cells
Other findings that support a diagnosis of DBA include family history, gene abnormalities, and birth defects.
DBA treatment may relate to:
- bone marrow transplant
The grimness of the disease is fluctuated. People with Diamond-Blackfan anemia may have an increased risk of having diseases related to a bone marrow defect, such as myelodysplastic syndrome, and certain cancers. Adults with the disease usually have hormonal problems later in their lives, typically with adrenal insufficiency, hypogonadism and hypothyroidism.
Diamond Blackfan Anemia. Centers for Disease Control and Prevention (CDC). 2015; http://www.cdc.gov/ncbddd/dba/facts.html.
Diamond-Blackfan anemia. Genetics Home Reference. November 2015; http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia.
Clinton, C & Gazda, HT. Diamond Blackfan Anemia. GeneReviews. 2016; http://www.ncbi.nlm.nih.gov/books/NBK7047/.
Diamond-Blackfan Anemia. Online Mendelian Inheritance in Man (OMIM). 2017; http://omim.org/entry/105650.
Muir C, Dodds A & Samaras K. Mid-life extra-haematopoetic manifestations of Diamond–Blackfan anaemia. Endocrinology, Diabetes & Metabolism Case Reports. 2017; 2017:16-0141. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409934/.