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Case Report



Gunthers with haemolytic anaemia extremly rare: A case report

Nilesh Kumar, Ankur Varshney, Arvind Anand, Dibyaranjan Behera, Ravi Anand, Ashutosh Tiwari.


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Abstract
Congenital erythropoietic porphyria (CEP), also called Gunthers is the rarest of the porphyrias , with a prevalence estimated at 1 in 1,000,000 or less. Only approximately 200 cases of CEP have been reported till now worldwide. CEP affects males and females equally, and occurs in all ethnic groups. Clinically it is a subacute to chronic type of porphyria, defect is expressed in infancy and clinical features such as extreme cutaneous photosensitivity, blistering, scarring , hyper- and hypo pigmentation of photo exposed parts. Haemolytic anaemia with splenomegaly, and retarded growth may also be present. Due to its rarity we are presenting Congenital erythropoietic porphyria with haemolytic anaemia.

Key words: Gunthers; Porphyria; Haemolytic Anaemia; Photosensitivity; Genetic



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