Diamond black fan anemia (DBA) is a rare inherited blood disorder characterized by failure of the bone marrow to produce sufficient red blood cells leading to anemia. It is typically present in early childhood.
Macrocytic Anemia:
Macrocytic anemia these are anemias that are classified by MCV that is greater than 100 > Classified MCV 100.fh but normal mcv = 80-100. In this case, the patient has a large red blood cell and MCV is gonna be greater than 100. MCH and MCHC are usually going to be normal to high depending on the situation and we can subdivide microcytic anemia based on mega blasts so we can have. Megaloblastic anemia”X” where we have nuclear deficits that lead to macrocytic anemia and we have non-megaloblastic anemia.
Megaloblastic Anemia;
This anemia (Megaloblastic) is caused by nuclear deficits that can occur due to defective DNA since this is all repaired.
Causes:
Folate defivercy (Defective DNA Synthesis)
> Vit B12 deficiency (Defective DNA Synthesis)
> Ortic Aciduria (Defective DNA Synthesis)
> Fancori Anemia (Defective DNA Synthesis)
Non-Megaloblastic Anemia:
In non-megaloblastic anemia, there’s nothing wrong with the nucleus deficit, nuclear repair, or synthesis. In this case, there’s no deficit in the DNA essentially.
Diamond Blackfan findings:
Macrocytic, non-megaloblastra anemia
No, hypersegmented neutrophils
Increased HbF percentage
Decreased total Hyb
50% of patients have congenital abnormalities
Craniofacial malformations.
Cardian defects, cleft palate
Symptoms:
- Fatigue and weakness
- Pale Skin
- Shortress of breath
- Growth delays
- Physical abnormalities
Diagnosis:
- Complete Blood Count Test
- Peripheral Blood Smear Test
- Bone marrow Blupsy Test
- Grenetic Testing
- Reticulocytopenia
Treatment of DBA:
- Use Corticosterads
Blood Transfusion
Hematopoietic cell transplantation can be given to steroid-refractory Patients.
Corticosteroids:
Often the first-line treatment they con stimulates red Hood cell production in some patients.
Blood Transfusion:
May to necessary for severe anemia, but Long-term use can lead to iron over land.
Iron Chelation Therapy:
If multiple transfusions are given to manage excess iron.