SEBORRHEA

DIAMOND-BLACKFAN ANEMIA

Overview and Facts

Diamond-Blackfan anemia (DBA) is a disease that essentially has an impact on the bone marrow. Individuals with this disorder usually also have abnormalities,which are physically influencing several parts of the body. 

The primary role of the bone marrow is to generate new blood cells. In DBA, the bone marrow fails to produce sufficient red blood cells (RBC), which bring oxygen to the tissue in the body. The inadequacy of red blood cells often becomes obvious during the early years. 

Usually, a person with anemia may experience weakness, pale looks, and fatigue. Besides, if you have anemia, you’re at high possibilities of getting various complications associated with the failing functions of the bone marrow. 

Types and Symptoms

SYMPTOMS

 

People with Diamond-Blackfan anemia have many symptoms similar to other kinds of anemia, such as weakness, pale skin, and fatigue. 

 

Diamond-Blackfan anemia affects the body and face of some children who are born with it. This includes:

 

  • Low, small ears
  • A small head
  • Flat nose and wide eyes
  • Abnormal thumbs
  • Webbed, short neck
  • Small button jaw
  • Cleft lip and palate
  • Small shoulder blades 

 

Furthermore, other indications of DBA include:

Diagnosis & Medications

DIAGNOSIS

Your doctor will perform a general physical exam and ask about your symptoms and medical history to diagnose Diamond-Blackfan anemia. 

Then, your doctor may request for complete blood count test to check the following:

  • The size of the (RBC) red blood cells
  • A protein in the red blood cells
  • The number of red blood cells, platelets, and white blood cells
  • The hematocrit or the number of red blood cells in the blood

In addition, there are various blood tests that a doctor can do to detect diamond-blackfan anemia, including:

  • Reticulocyte count
  • Erythrocyte adenosine deaminase 
  • Fetal hemoglobin levels
  • Biopsy and bone marrow aspiration
  • Genetic tests

TREATMENT

Patients who are diagnosed with Diamond-Blackfan anemia are able to live longer with medical treatment. Besides, for some, symptoms will totally go away for a time. 

The two most common treatments are corticosteroid medication and blood transfusion. However, some individuals may also consider bone marrow transplant as one of their options, even though it’s a high-risk procedure. Also, searching for a donor that matches you is often challenging. 

You must talk about all the options you have in mind with the doctor so that he/she will know what treatment will be best for you.

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