According to a publication from Medical Laboratory Observer, a recently published case study following a family with Diamond-Blackfan anemia presents an overview of the condition; and a multi-step approach describing how a case might generally be diagnosed and treated.
About Diamond-Blackfan Anemia
Diamond-Blackfan anemia is a genetically dominant bone marrow disorder that is characterized by the insufficient production of red blood cells. Any condition that results in a deficiency of red blood cells can be classified as anemia, according to the National Heart, Lung and Blood Institute.
Though anemia can be mild under other conditions, Diamond-Blackfan is a severe form that can lead to serious complications like certain types of cancer or myelodysplastic syndrome. Diamond-Blackfan is also responsible for physical abnormalities in about half of those it affects. Common abnormalities include microcephaly (small head size), cleft palate/lip, malformed or absent thumbs, and more.
Severity of the condition can vary even between those in the same family. Some individuals have been identified that have “non-classical” forms of the condition that may present only certain aspects of the fully-realized disorder.
Diagnostic Criteria and Treatment
According to the Diamond Blackfan Anemia Foundation’s 2008 International Clinical Care Consensus Document, an individual meets the diagnostic criteria for Diamond-Blackfan anemia if they have:
- Macrocytic anemia with no other contributing cytopenia
- Abnormally low reticulocytes (nascent red blood cells) count throughout the body
- Normal marrow composition
- Normal platelet (clotting cells) and neutrophil (type of white blood cell) counts, and
- Are less than one year old (minimally)
Once an individual has been diagnosed with Diamond-Blackfan anemia, treatment usually begins with the administration of corticosteroids. Though the mechanism is not understood, a large dose of corticosteroids in the two weeks following diagnosis can stimulate increased red blood cell production in the bone marrow. After this initial half-month period, the dosage is scaled back to a sustainable “maintenance” dose that will be continuously administered. The Diamond Blackfan Anemia Registry reports that 82% of Diamond-Blackfan patients initially respond to the steroid treatment.
Regular blood transfusions are also commonly administered to Diamond-Blackfan patients, with 36% of the aforementioned steroid-responsive patients receiving them monthly. Scheduled transfusions like these are used to maintain suitable hemoglobin levels in the blood.
With diligent maintenance and follow-up, Diamond-Blackfan can be a manageable condition. Some rare cases might even be curable with stem cell therapy. One animal study found that the amino acid leucine was associated with significant clinical improvement in mice with simulated Diamond-Blackfan, which could be an avenue of further scientific inquiry in the future.
Diamond-Blackfan anemia is believed to affect somewhere between 5 and 7 million worldwide. Why is it important to continue to search for cures when effective methods of symptom management exist? Share your thoughts with Patient Worthy!
