Diamond-Blackfan Anemia (DBA) is a rare, inherited bone marrow failure disorder, characterized by a failure of the bone marrow to produce red blood cells. This failure causes anemia, which can lead to a variety of health issues. Among the genes implicated in this condition, mutations in the RPL5 gene are responsible for Diamond-Blackfan Anemia Type […]
Hematology Diseases
Symptoms and Testing information for SRP72 Gene Bone Marrow Failure Syndrome Type 1 Genetic Test
Bone marrow failure syndromes represent a group of disorders characterized by the bone marrow’s inability to produce sufficient blood cells. Among these, SRP72 Gene Bone Marrow Failure Syndrome Type 1 is a condition that has garnered attention within the medical community due to its genetic basis and the critical need for early diagnosis and intervention. […]
Symptoms and Testing information for RPL11 Gene Diamond-Blackfan Anemia Type 7 Genetic Test
DNA Labs UAE is at the forefront of genetic diagnostics, offering a comprehensive range of tests designed to identify genetic conditions accurately. Among these, the RPL11 Gene Diamond-Blackfan Anemia Type 7 Genetic Test stands out for its specificity in diagnosing a rare but significant form of anemia. This article delves into the symptoms of the […]
Symptoms and Testing information for ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2 Genetic Test
Symptoms of ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2 Bone Marrow Failure Syndrome Type 2, associated with mutations in the ERCC6L2 gene, is a rare genetic disorder that can have significant implications on an individual’s health. This condition primarily affects the bone marrow’s ability to produce blood cells efficiently, leading to a spectrum of […]
Symptoms and Testing information for HBG2 Gene Cyanosis Transient Neonatal Genetic Test
The HBG2 gene plays a crucial role in the development and functioning of hemoglobin in humans. Mutations in this gene can lead to various blood-related disorders, including transient neonatal cyanosis. This condition is characterized by a blue or purple coloration of the skin, often apparent shortly after birth, indicating that the baby’s blood is not […]
Symptoms and Testing information for PIEZO1 Gene Dehydrated Hereditary Stomatocytosis Genetic Test
Symptoms of PIEZO1 Gene Dehydrated Hereditary Stomatocytosis Genetic Test Dehydrated Hereditary Stomatocytosis (DHS), also known as xerocytosis, is a rare genetic condition that affects red blood cells. It is primarily caused by mutations in the PIEZO1 gene. This condition leads to a variety of symptoms that can significantly impact the quality of life of those […]
Symptoms and Testing information for HBB Gene Delta-Beta Thalassemia Genetic Test
Delta-Beta Thalassemia is a rare genetic disorder that affects the body’s ability to produce hemoglobin, the protein in red blood cells that carries oxygen throughout the body. This condition results from mutations in the HBB gene complex, which is critical for hemoglobin production. Understanding the symptoms of this condition is crucial for early diagnosis and […]
Symptoms and Testing information for RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis Genetic Test
Symptoms of RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis Diamond Blackfan Anemia (DBA) is a rare blood disorder, characterized by a failure of the bone marrow to produce enough red blood cells. This condition can lead to severe anemia and other health issues. Type 15 of this disorder, associated with mutations in […]
Symptoms and Testing information for RPS19 Gene Diamond-Blackfan Anemia Type 1 Genetic Test
Diamond-Blackfan Anemia (DBA) is a rare blood disorder, characterized by a failure of the bone marrow to produce enough red blood cells. This condition can lead to severe anemia and various other complications. Among the genetic causes of DBA, mutations in the RPS19 gene are the most common, responsible for approximately 25% of all cases. […]
Symptoms and Testing information for RPS26 Gene Diamond-Blackfan Anemia Type 10 Genetic Test
Symptoms of RPS26 Gene Diamond-Blackfan Anemia Type 10 Diamond-Blackfan Anemia (DBA) is a rare blood disorder, typically diagnosed early in life, often within the first year. It is characterized by the failure of the bone marrow to produce enough red blood cells, which are crucial for carrying oxygen throughout the body. This condition can lead […]