Significance of molecular and genetic research in hypochromic microcytic anemia refractory to ferrotherapy in the diagnosis of erythropoietic protoporphyria
DOI:
https://doi.org/10.15574/SP.2022.127.102Keywords:
erythropoietic protoporphyria, microcytic hypochromic anemia, genetic disease, childrenAbstract
Erythropoietic protoporphyria (EPP) is a rare hereditary disease that occurs worldwide, but there are regional differences in its epidemiology. The disease is caused by a partial deficiency of ferrochelatase, which is the last enzyme in the pathway of heme biosynthesis. In typical EPP, photosensitivity appears after first exposure to the sun in early childhood. Microcytic anemia is observed in 20-60% of registered EPP patients, which is mistakenly initially diagnosed as iron-deficiency anemia and prescribed iron-containing drugs.
Purpose - is to present a clinical case of iron refractory hypochromic microcytic anemia in a four-month-old boy to improve the diagnosis of EPP.
Clinical case. In the publication, we report on a 4-month-old boy in whom the disease debuted with hypochromic microcytic anemia refractory to the administration of iron preparations, target-like erythrocytes, normal indicators of iron metabolism, a slight enlargement of the spleen were found in the peripheral blood smear. The emphasis in the publication is on differential diagnosis, preventive measures and modern pathogenetic treatment with the latest approaches, which are aimed at solving the main defects at the molecular or cellular level, with the prospect of significantly improving the results of this orphan disease. Verification of the disease took place with the help of genome sequencing, a heterozygous pathogenic mutation FECH c.315-48T>C, characteristic of EPP which the child received from the father, was found.
The experience of iron-refractory hypochromic microcytic anemia in a four-month-old boy gave grounds to expand the range of examinations, including hemoglobin electrophoresis and the use of molecular genetic studies, for differential diagnostic purposes. The report of this clinical case will be of informational value for family doctors, pediatricians, hematologists and a wide range of specialists.
The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies.
No conflict of interests was declared by the authors.
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