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The Genetics Behind HbS
Beta Thalassemia

The health effects caused by sickle cell disease can be mild or severe depending on which form a person experiences. As an inheritable condition, abnormal genes are the cause of sickle cell symptoms like pain and anaemia, and the type of abnormal gene a parent passes on can dictate the effects of the disorder.

With haemoglobin beta thalassemia (HbS) sickle cell disease, those affected receive abnormal genes from both parents, but the effects of this disorder are not usually severe.

Genetics Plays a Crucial Role in the Different Types of Sickle Cell Disease

As an inherited condition, people with sickle cell disease receive certain mutated genes from their parents:

  • With haemoglobin SS (HbSS) forms, a person receives an abnormal haemoglobin S gene from each parent. 
  • People with haemoglobin SC (HbSC) sickle cell disease inherit one haemoglobin S gene and one haemoglobin C gene from their parents. 
  • Sickle cell trait occurs when a person only inherits a single abnormal gene. These individuals often experience no symptoms or may only develop mild anaemia, but they can pass on the trait to their offspring.

When it comes to HbS sickle cell disease, people receive one haemoglobin S gene from one parent and one beta thalassemia gene from the other. Additionally, there are two distinct subtypes of beta thalassemia genes:

  • HbS Beta 0 (Zero) – This subtype is more severe and causes effects similar to HbSS sickle cell disease. 
  • HbS Beta + (Plus) – This subtype is associated with mild health effects and is more common than the HbS beta 0 subtype.

Some people develop a highly rare form of sickle cell disease by inheriting one haemoglobin S gene and one irregular gene (such as haemoglobin D, E, and O genes).

 
 
 

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