Hemochromatosis type 1: A case report

Authors

Keywords:

iron metabolism disorders, hemochromatosis type 1

Abstract

Introduction: Hemochromatosis type 1 is a genetic disease with great clinical and genetic heterogeneity, and an autosomal recessive inheritance pattern. Case report: The case of an 11-year-old male adolescent, son of a consanguineous couple is reported. The patient had been treated at the Provincial Genetics Center in Holguín since he was two years old due to growth problems, recurrent respiratory infections and gastrointestinal disorders with pancreatic insufficiency. Respiratory and liver failures were found, as well as cirrhosis, symptoms that were accompanied by a clinical sign: progressive hyperpigmentation of the skin. Different molecular studies were conducted for cystic fibrosis, alpha-1 antitrypsin deficiency and hemochromatosis. He was diagnosed, heterozygously, a mutation for alpha-1 antitrypsin Pi M/Z deficiency and another mutation for hemochromatosis type 1, H63D/. It was concluded he presented hemochromatosis type 1. Conclusions: It was possible to confirm the value of the clinical method to define complex cases which, due to their heterogeneity, cannot be defined molecularly with the technology that is still.

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Author Biography

Elayne Esther Santana Hernández, Centro Provincial de Genética Médica, Holguín

Especialista de I y II Grado en Medicina General Integral y en Genética Clínica. Máster en Atención Integral al Niño. Profesora Auxiliar de la Universidad de Ciencias Médicas de Villa Clara. Investigadora Agregada.

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Published

2019-06-13

How to Cite

1.
Santana Hernández EE. Hemochromatosis type 1: A case report. Acta Méd Centro [Internet]. 2019 Jun. 13 [cited 2025 Jul. 2];13(3):422-7. Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/888

Issue

Vol. 13 No. 3 (2019): July-September

Section

Case Reports

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