Sri Lanka has reported its first-ever case of Congenital Methemoglobinemia, a rare genetic disorder that causes the skin to appear blue and severely affects breathing. The condition was diagnosed in a child from the Medawachchiya area in Anuradhapura.
The disorder was identified by specialists at the premature infant unit of the Anuradhapura Teaching Hospital. Dr. S.U.C. Ranawaka, a neonatal care specialist at the hospital, explained that the child’s growth and development had been significantly impacted by the condition.
Due to the lack of local diagnostic facilities, the child’s blood sample was sent to Germany for advanced testing, where the diagnosis was confirmed. The Ministry of Health provided critical medication, which allowed for effective treatment and saved the child’s life.
About Congenital Methemoglobinemia
Congenital Methemoglobinemia is a rare disorder where normal hemoglobin is replaced by methemoglobin, a form that cannot effectively carry oxygen to tissues. This leads to oxygen deprivation, causing symptoms like cyanosis (a bluish discoloration of the skin), weakness, and shortness of breath.
The condition is often linked to consanguineous marriages, but in this case, the child’s parents denied being closely related. Globally, the disorder affects approximately one in every 100,000 children.
Dr. Ranawaka emphasized the importance of early diagnosis and intervention in managing such rare conditions. This landmark case highlights the need for enhancing diagnostic facilities and awareness in Sri Lanka to address rare genetic disorders effectively.
