Diamond-Blackfan Anemia

By: Vince Dalai

How Diamond-Blackfan Anemia harms the body

Diamond-Blackfan Anemia is a inherited disease of the Bone marrow. The function of bone marrow is to produce new red and white blood cells. In Diamond-Blackfan Anemia the bone marrow is not able to produce new red blood cells. The disease is caused by mutations in the RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 genes. Approximately 60% of patients have a mutation in a single one of these genes. These genes provide instructions to make many of the 80 different ribosomal proteins. A ribosome is made of subunits, and these genes instruct the ribosome to make ribosomal proteins found in these subunits. Some of these proteins are used in the assembly of the ribosome and stabilizing it. Other proteins act as an aid for carrying out the function of the ribosome in the cell, which is building new proteins. If the ribosome cannot build new proteins the cell cannot function. Studies show that a shortage of functioning ribosomal proteins, result in the self destruction of cells that form blood in the bone marrow, resulting in Diamond-Blackfan Anemia

Diagnosis and Symptoms of Diamond-Blackfan Anemia

The Diagnosis of Diamond-Blackfan Amenia

Most patients of Diamond Blackfan Anemia are diagnosed by their first birthday. Medical procedures that aid in diagnosing Diamond-BlackFan Anemia are:

1. Complete blood count test (CBC)

2. Coombs Test

3. Fetal hemoglobin levels test

4.eADA levels

5.MCV

6.Bone Marrow Biopsy

7.recticulocyte count.

8. Genetic testing

The symptoms of Diamond-Blackfan Anemia

The symptoms of Diamond-Blackfan Anemia are:

Fatigue

Weakness

Pale complexion

Half of the patients with Diamond Blackfan Anemia are born with physical abnormalities.

treatment

Treatment options are:

Steriods

Bone marrow Transplant

Blood transfusions.