Abstract
Women with β-thalassemia (BT) and sickle cell disease (SCD) have a high risk of infertility and premature ovarian insufficiency. Different fertility preserving strategies, including ovarian tissue cryopreservation (OTC) and oocyte cryopreservation has been considered, and healthy babies have been born after successful OTC and transplantation. We evaluated follicle number and follicle health in ovarian tissue from a cohort of BT and SCD patients who underwent OTC before the age of 18 years. Patients undergoing OTC from 2002 to 2019 were included. A total of 14 girls and adolescents with BT and four with SCD, aged 2.8–17.4 years at OTC were included together with a reference group of 43 girls and adolescents with non-anemia diseases considered to have normal ovaries aged 0.6–17.9 years at OTC. Ovarian follicle density was measured in cortex biopsies and compared to the reference group. Expression of proteins associated with follicular health was evaluated using immunohistochemistry. Follicles were detected in the ovarian cortex biopsies from all patients with BT and SCD. The follicle densities were within the 95% prediction interval of the reference group in all cases. A similar expression of six proteins essential for follicular health was detected using immunohistochemistry in BT, SCD, and references. OTC should be considered an option for young girls and adolescents with BT and SCD.
Highlights
Worldwide around 3–400,000 children are born annually with an inherited recessive hemoglobin disorder of which thalassemia and sickle cell disease (SCD) are the most prevalent [1, 2]
There is a tradition for consanguineous marriage in some of these regions, which further increases the risk of thalassemia and SCD as well as carriers of these autosomal recessive disorders [3, 6]
A total of 14 girls and adolescents with BT and four with SCD aged 2.8–17.4 years had one entire ovary removed by laparoscopy for fertility preservation by ovarian tissue cryopreservation (OTC) before hematopoietic stem cell (HSC)
Summary
Worldwide around 3–400,000 children are born annually with an inherited recessive hemoglobin disorder of which thalassemia and sickle cell disease (SCD) are the most prevalent [1, 2]. The extremely high prevalence of thalassemia and SCD in regions with malaria or regions in which malaria previously was prevalent, reflects beneficial effects of these phenotypes. The malaria plasmodium parasite have a diminished survival and reproduction in the blood cells of patients with thalassemia and SCD resulting in better survival in these patients compared to subjects with normal red blood cells [4, 5]. There is a tradition for consanguineous marriage in some of these regions, which further increases the risk of thalassemia and SCD as well as carriers of these autosomal recessive disorders [3, 6]. Infertility in SCD is seen due to chronic inflammation, oxidative stress, transfusion-related hemochromatosis, reperfusion injury to the ovary and ischemia [10]
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