Rh deficiency syndrome
Rh Deficiency Syndrome
Rh deficiency syndrome (pronunciation: /ɑːr eɪtʃ dɪˈfɪʃənsi sɪnˈdroʊm/), also known as Rh-null syndrome, is a rare genetic disorder characterized by the absence or extremely low levels of Rh blood group antigens on the surface of red blood cells. The term "Rh" is derived from the Rhesus monkey, in which the Rh factor was first identified.
Etymology
The term "Rh" is derived from the Rhesus monkey, in which the Rh factor was first identified. The term "deficiency" comes from the Latin word 'deficientia', meaning 'a lack or shortage'. "Syndrome" is derived from the Greek word 'syndromē', which means 'concurrence of symptoms, concourse of things running together'.
Symptoms
Symptoms of Rh deficiency syndrome may include anemia, jaundice, and an enlarged spleen. In severe cases, the condition can lead to heart failure.
Causes
Rh deficiency syndrome is caused by mutations in the RHAG gene. This gene provides instructions for making a protein that is a component of the Rh blood group system.
Diagnosis
Diagnosis of Rh deficiency syndrome is typically made through blood tests that can identify the absence or extremely low levels of Rh antigens on the surface of red blood cells.
Treatment
Treatment for Rh deficiency syndrome typically involves managing the symptoms. This may include blood transfusions for anemia and medications to manage jaundice.
See Also
External links
- Medical encyclopedia article on Rh deficiency syndrome
- Wikipedia's article - Rh deficiency syndrome
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