Journal of Blood Disorders & Transfusion

Congenital Dyserythropoietic Anemia (CDA) and its Causes: Pediatric Blood Disorder

Grace Harvey^* Department of Hematology, University of Connecticut, Hartford, United States
^*Correspondence: Grace Harvey, Department of Hematology, University of Connecticut, Hartford, United States, Email:

Received: 01-Apr-2022, Manuscript No. JBDT-22-16662; Editor assigned: 05-Apr-2022, Pre QC No. JBDT-22-16662 (PQ); Reviewed: 19-Apr-2022, QC No. JBDT-22-16662; Revised: 26-Apr-2022, Manuscript No. JBDT-22-16662 (R); Published: 03-May-2022, DOI: 10.4172/2155-9864.22.13.499

Description

The inherited blood condition of Congenital Dyserythropoietic Anemia (CDA) disrupts the formation of red blood cells. This illness is one in several kinds of anemia, which is characterized by a scarcity of red blood cells. This deficiency inhibit the blood from delivering enough oxygen to the body's tissues. Tiredness (fatigue), weakness, pale skin, and other problems are possible side effects. Type I, type II, and type III of CDA have been identified by researchers. Different genetic reasons and overlapping patterns of signs and symptoms distinguish the categories.

Anemia of moderate to severe characteristics of severity is detected as CDA type I. This is most typically detected in childhood or adolescence, while sometimes it can be found antenatal stage. Many people who are affected have jaundice (yellowing of the skin and eyes) as well as an enlarged liver and spleen (hepatosplenomegaly). This illness also causes the body to absorb too much iron, which can cause tissue and organ damage. An irregular heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis) are all possible consequences of iron absorption. People with CDA type I are rarely born with skeletal deformities, which most commonly affect the fingers and toes.

Anemia caused by CDA type II can range from mild to severe, and most people with CDA effect jaundice, hepatosplenomegaly, and gallstone formation. This type of schizophrenia is most commonly diagnosed in teens or early adulthood. After the age of 20, an abnormal buildup of iron causes heart disease, diabetes, and cirrhosis. The signs and symptoms of CDA type III are typically milder than the other forms. Hepatosplenomegaly is uncommon in those affected, and iron does not accumulate in tissues or organs. Vision impairment can occur in adults due to abnormalities in the retina, a specialized tissue in the back of the eye. Some patients with CDA type III also have monoclonal gammopathy, a blood condition that can lead to white blood cell malignancy (multiple myeloma).

A few more CDA variations have been identified, although they appear to be unusual and little is known about them. When the genetic reasons of these variants are discovered, some of them may be classified with the three primary forms of CDA.

Causes of CDA

Mutations in the CDAN1 gene are the most common cause of CDA type I. The function of this gene is unknown, and how mutations generate CDA type I's distinctive characteristics is unknown. Because some persons with this ailment do not have mutations in the CDAN1 gene, researchers believe that changes in at least one additional gene might have been responsible.

Mutations in the SEC23B gene cause CDA type II. This gene encodes a protein that aids in the transport of other proteins within cells. This protein may aid in the delivery of proteins to the places where they are needed during red blood cell formation. Researchers are trying to figure out how mutations in the SEC23B gene cause CDA type II signs and symptoms.

The genetic cause of CDA type III remains unknown. Mutations in a gene on the long arm of chromosome 15, at the 15q22 location, are most likely to be responsible. Researchers are still looking for the gene that is linked to this version of the disease.

CDA is caused by genetic abnormalities that disturb the normal production of red blood cells, a process known as erythropoiesis. The term "dyserythropoietic" implies "abnormal red blood cell formation" in the name of this disorder. Erythroblasts, or young red blood cells, are abnormally shaped and have other abnormalities in persons with CDA (such as extra nuclei). These aberrant erythroblasts are unable to grow into fully functional red blood cells. The consequent lack of healthy red blood cells causes anemia, as well as consequences like hepatosplenomegaly and an inappropriate buildup of iron.