NIV Congres

Introduction: Iron deficiency anemia has been associated with mild changes in hair color. This case report describes a dramatic change in hair color due to treatment of a genetic form of iron deficiency anemia.

Case: A 19-year old Turkish woman presented with an unexplained iron deficiency anemia since childhood. She had no other complaints than tiredness and had an obvious lighter hair color than her family members. Repetitive gastrointestinal examinations throughout childhood had revealed no abnormalities and hematological diseases were ruled out. Upon presentation her hemoglobin was 8.1 mg/dl and transferrin saturation was 2.7%, despite oral iron supplementation. Serum hepcidin turned out to be inadequately high in relation to the degree of iron deficiency, suggesting a genetic disorder in iron metabolism. Genetic investigation revealed a homozygous mutation in the TMPSS6 gene encoding for matriptase-2. This is indicative of the diagnosis iron-refractory iron deficiency anemia (IRIDA) caused by matriptase deficiency. Matriptase-2 normally blocks BMP-receptor mediated hepcidin induction in the liver. Absence of the protein leads to inadequate formation of hepcidin, attenuating the release of iron into the plasma, thereby leading to iron starvation of the bone marrow and resulting in iron deficiency anemia.

Intravenous iron supplementation was started. Six months later her hemoglobin had risen to 10.8 mg/dl and the tiredness had vanished. Surprisingly her hair had started to grow dark. Iron deficiency has previously been associated with mild alternating segmentation of hair into dark and light bands, called segmented heterochromia. But this is the first case thus far reported that shows a dramatic and non-alternating change in hair color due to iron deficiency, that was completely reversed by intravenous iron supplementation therapy.

Conclusion: Iron deficiency anemia can lead to striking hair color changes.