Innovation sought for fertility tests in young males with sickle cell

Methods should make semen analysis more likely to be completed, study says

Andrea Lobo, PhD avatar

by Andrea Lobo, PhD |

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Having male adolescents with sickle cell disease (SCD) undergo fertility testing by semen analysis may not be feasible if it involves travel to a reproductive diagnostic center, according to a recent study.

Despite having access to reproductive health education and compensation to cover transportation costs, only 15% of adolescents participating in the study adhered to fertility testing. Barriers to testing included discomfort and a lack of time or transportation.

“These findings further underscore the need for innovative strategies to examine semen parameters and fertility in male youth with SCD to ensure that they are able to achieve their health and reproductive goals,” the researchers wrote.

The study, “Experiences and outcomes of fertility testing in male adolescents with sickle cell disease,” was published in the journal Pediatric Blood & Cancer.

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More Information Needed on Impact of SCD, Treatments on Male Fertility

SCD is caused by mutations in the beta-globin (HBB) gene, which contains instructions to make a component of hemoglobin — the protein in red blood cells that’s responsible for transporting oxygen throughout the body.

These mutations ultimately result in the production of a defective form of hemoglobin that causes red blood cells to take on the shape of a sickle. Misshapen red blood cells cannot pass through small blood vessels as easily, slowing or obstructing blood flow and impairing oxygen delivery to body tissues.

Recent studies have shown that adult males with sickle cell receiving or not receiving hydroxyurea, an approved treatment for sickle cell, have abnormal semen parameters, raising the concern that the disease and/or its treatments might affect fertility.

“Yet, studies that include adolescents are lacking,” the researchers wrote.

The study and its findings

In this study, researchers in the U.S. sought to determine the feasibility of obtaining semen samples from adolescents with sickle cell at a reproductive diagnostic center as well as the barriers associated with testing. It also sought to examine the semen parameters of adolescents who completed the procedure.

For that, they recruited adolescents with sickle cell, ages 14 to 22, and their caregivers to participate in the study. They were asked to complete a web-based reproductive health program called Fertility edUcation To Understand Reproductive hEalth in SCD (FUTURES). The program described the potential impact of sickle cell and/or its treatments on fertility, as well as the purpose and process of fertility testing.

A total of 33 adolescents completed FUTURES. After that, they were offered the option to have a semen analysis at a reproductive diagnostic center, with costs of testing and transportation covered. Fertility testing was considered to be feasible if at least 25% of the adolescents who completed FUTURES opted to be tested.

Overall, five adolescents (15%) submitted a sample for semen analysis, a proportion that was below the minimum to consider fertility testing as feasible.

Reasons pointed out by adolescents and their caregivers to complete semen testing included interest in learning about their reproductive health, assistance in coordinating appointments, and the absence of costs. The reasons for not testing included discomfort, lack of time or transportation, and forgetting the appointment.

Two of the adolescents who underwent fertility testing had the HbSC disease subtype, and three had the HbSS subtype. Two of those with HbSS were being treated with hydroxyurea.

HbSS, usually the most severe form of sickle cell disease, occurs when patients have both mutated HBB gene copies producing a faulty version of hemoglobin called hemoglobin S. The HbSC subtype occurs when one gene copy produces hemoglobin S while the other encodes hemoglobin C, another defective form of the protein.

Each analysis provided information on several semen parameters, including volume, viscosity, sperm cell levels, motility (movement), and morphology (form and structure).

Sperm cells were identified in the three adolescents who had never been treated with hydroxyurea. In two of them, sperm cell levels were within the normal range; in the third, they were considered low.  On the contrary, in the two adolescents then receiving hydroxyurea, very few or no sperm cells were found.

According to researchers and considering the small sample in this study, “more research is needed to elucidate these effects (e.g., what effect SCD and/or hydroxyurea has, whether or not these effects may be reversible) and examine actual fertility outcomes.”

“Our qualitative findings suggest that developmentally and culturally appropriate fertility education and increased advocacy for affordable reproductive healthcare for this population may facilitate adolescents with SCD to pursue fertility testing, whereas innovative methods to collect semen samples that limit patient discomfort and time constraints (e.g., mail-in testing where semen samples are collected at home) are needed to reduce barriers,” they wrote.