Journal of Genetic Syndromes & Gene Therapy
Open Access

Sickle Cell Anemia: A Haemoglobin Disease and Advances in Treatment

Katrina Jensen^{* *}Correspondence: Katrina Jensen, Department of Molecular Cell Biology, School of Natural Sciences, University of California, California, USA, Email:

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Description

Sickle cell anemia is a hereditary blood disorder that affects millions of people worldwide. It is a condition characterized by the abnormal shape of red blood cells, which take on a sickle-like shape instead of the normal round shape. This alteration in the structure of red blood cells causes various complications and health problems. In this article, we will delve deeper into sickle cell anemia, exploring its causes, symptoms, diagnosis, treatment options, and ongoing research for potential cures.

Causes and genetics

Sickle cell anemia is caused by a genetic mutation in the hemoglobin gene. Hemoglobin is a protein found in red blood cells that carries oxygen throughout the body. The mutation leads to the production of abnormal hemoglobin known as hemoglobin S, which causes the red blood cells to become rigid and sticky. These abnormal cells can clog blood vessels and impede the flow of oxygen to various tissues and organs.

Sickle cell trait and inheritance

Sickle cell anemia is an autosomal recessive disorder, meaning it requires the inheritance of two abnormal copies of the hemoglobin gene (one from each parent) for the disease to manifest. Individuals who inherit one abnormal gene and one normal gene have sickle cell trait, which typically does not cause symptoms but can be passed on to future generations.

Symptoms and complications

The severity and frequency of symptoms can vary from person to person. The hallmark symptom of sickle cell anemia is a pain crisis, often described as a severe and sudden onset of pain in the affected areas. This pain occurs due to the blockage of blood flow in small blood vessels, leading to tissue damage. Other symptoms may include fatigue, shortness of breath, delayed growth and development in children, frequent infections, and yellowing of the skin and eyes (jaundice).

Complications associated with sickle cell anemia can affect multiple organ systems. The continous increase in pain can cause damage to bones, joints, and organs, leading to chronic pain and organ dysfunction. Sickle cell anemia can also result in acute chest syndrome, a condition similar to pneumonia that can be life-threatening. Individuals with the disease are also prone to an increased risk of stroke, pulmonary hypertension, and kidney problems.

Diagnosis

Sickle cell anemia is typically diagnosed through a combination of blood tests. A Complete Blood Count (CBC) can reveal a low red blood cell count and a high number of immature red blood cells. The presence of sickle-shaped cells can be confirmed using a microscope examination of a blood smear. Additionally, a hemoglobin electrophoresis test can determine the specific type of abnormal hemoglobin present.

Treatment options

Although there is no cure for sickle cell anemia, there are various treatment options available to manage the symptoms and complications associated with the disease. These include:

Pain management: Medications, such as Nonsteroidal Anti- Inflammatory Drugs (NSAIDs), opioids, and heat application, are used to alleviate pain during a crisis.

Hydroxyurea: This medication stimulates the production of fetal hemoglobin, which helps prevent the formation of sickle-shaped red blood cells.

Blood transfusions: Regular blood transfusions can increase the number of healthy red blood cells and reduce the frequency of complications.

Bone marrow transplantation: This procedure offers the possibility of a cure by replacing the faulty bone marrow with healthy stem cells from a compatible donor. However, it is limited by the availability of suitable donors and potential complications.

Gene therapy: Promising advancements in gene therapy research offer hope for a potential cure. This approach aims to correct the genetic mutation responsible for sickle cell anemia, enabling the production of healthy red blood.