Characteristics of markers of ovarian reserve in women with transfusion-dependent beta thalassaemia major with a successful pregnancy outcome

Abstract

Objective: Spontaneous fertility and successful pregnancies have been reported in well-chelated and transfused women with beta thalassaemia major (BTM) however majority of women are sub fertile due to hypogonadotropic hypogonadism (HH) and lack of ovulation. Little is known about the effect of iron overload on ovarian follicles and whether ovarian reserve is affected by the condition or treatment. The predictive value of markers of ovarian reserve in relation to live birth in this group of women remains unclear. The aim of this study was to characterize the markers of ovarian reserve in women with transfusion-dependent beta thalassaemia major who had at least one successful live birth. Study design: This is a retrospective study in which we collected data from 12 women with transfusion-dependent BTM and at least one successful live birth from our thalassaemia clinic between July 2007 to June 2022. Patient demographics, medical history, menstrual history, hormonal parameters (serum levels of FSH, oestradiol, TSH and AMH) and antral follicle count were recorded. Serum levels of ferritin, cardiac T2*, liver iron concentration and thyroid function results were recorded from clinic visit prior to either natural conception or assisted conception treatments. Results: There was a wide variation in serum levels of AMH and antral follicle counts amongst women with BTM who had a successful live birth. Low serum AMH levels were noted in 4 women with HH with a background of BTM (33.3%) as compared to the established normal ranges for women of similar age. Also, low AFC counts were noted in 7 women (out of which 6 had HH) with BTM (58.3%) as compared to the established normal ranges for women of similar age. Conclusion: Levels of serum AMH and antral follicle counts appeared lower in up to half the women with BTM and hypogonadotropic hypogonadism with a successful live birth as compared to established normal ranges for women of similar age suggesting that these markers may not accurately reflect the ovarian reserve for all in this group of women. There are limited data about the predictive value of contemporary markers ovarian reserve such as serum AMH and AFC levels in predicting successful fertility or pregnancy outcomes in women with transfusion dependent BTM and larger studies are needed.