Bone Marrow Exam Can Be Crucial in Diagnosing Rare Porphyria

Bone Marrow Exam Can Be Crucial in Diagnosing Rare Porphyria

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Bone Marrow Exam Can Be Crucial in Diagnosing Rare Porphyria

A baby girl was found to have congenital erythropoietic porphyria, highlighting the importance of closely examining the bone marrow for diagnosing this rare form of porphyria. Her case was described in the study, “Bone marrow erythroid cell inclusions reveal congenital erythropoietic porphyria,” published in the British Journal of Haematology, by a team of researchers in France. The baby was born full-term by cesarean section, weighing 2.7 kg or about 6 lbs. Routine ultrasounds performed during pregnancy…

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