In the realm of genetic diagnostics, understanding the root causes of anemia has taken a significant leap forward with the identification of various genetic mutations responsible for this condition. One such discovery is the mutation in the SEC23B gene, which leads to a rare but impactful form of anemia known as Congenital Dyserythropoietic Anemia type II (CDA II). At DNA Labs UAE, we offer a comprehensive genetic test specifically designed to identify mutations in the SEC23B gene, providing crucial information for the diagnosis, management, and treatment of affected individuals.
Symptoms of SEC23B Gene Anemia Dyserythropoietic Type 2
Congenital Dyserythropoietic Anemia type II, also known as Hereditary Erythroblastic Multinuclearity with Positive Acidified-serum Test (HEMPAS), is a condition characterized by ineffective erythropoiesis, leading to a variety of symptoms. The most common symptoms associated with SEC23B gene anemia include:
- Anemia: Individuals with this condition often present with mild to moderate anemia, which can manifest as fatigue, weakness, pale skin, and shortness of breath.
- Jaundice: The buildup of bilirubin due to increased red blood cell destruction often leads to jaundice, giving the skin and whites of the eyes a yellowish appearance.
- Splenomegaly: An enlarged spleen is a common finding in individuals with CDA II, as the spleen works overtime to filter out the abnormal red blood cells.
- Gallstones: The increased breakdown of red blood cells can lead to the formation of gallstones, which may cause abdominal pain.
- Iron Overload: Despite being anemic, individuals with CDA II can accumulate iron in the body, leading to complications if not properly managed.
It is important to note that the severity and combination of symptoms can vary significantly among affected individuals. Early and accurate diagnosis through genetic testing is crucial for managing the condition effectively.
SEC23B Gene Anemia Dyserythropoietic Type 2 Genetic Test at DNA Labs UAE
At DNA Labs UAE, we understand the importance of precise genetic testing for conditions like SEC23B gene anemia. Our state-of-the-art laboratory is equipped with the latest technology to provide accurate and reliable results. The genetic test for SEC23B gene anemia dyserythropoietic type 2 involves a simple blood sample from the patient, which is then analyzed for mutations in the SEC23B gene.
The cost of the SEC23B gene anemia dyserythropoietic type 2 genetic test is 4400 AED. This comprehensive test is a critical step in diagnosing the condition, enabling healthcare providers to tailor treatment plans to the specific needs of each patient.
For more information about the SEC23B gene anemia dyserythropoietic type 2 genetic test, or to schedule a test, please visit our website at DNA Labs UAE.
Understanding the genetic basis of anemia not only aids in the diagnosis and treatment of affected individuals but also provides valuable information for family planning and genetic counseling. DNA Labs UAE is committed to providing the highest quality genetic testing services, helping patients and their families navigate the complexities of genetic conditions with confidence and care.
