SICKLE CELL AND INFERTILITY (PART 1)

While desiring a genetic disorder free world, this week’s publication aims at viewing how the sickle cell disease can affect fertility and the management of sickle cell disease in pregnancy and childbirth.

In humans, there are various genotypes ranging from AA, AS, AC, SS, SC, and so on and basically four blood groups (A, B, AB and O). The gene for normal blood type is the “A” gene while the sickle cell gene is indicated by “S”. Those that are born with sickle cell disease (SCD) carry two “S” genes and are classified as SS. This occurs when a child inherits one “S” gene from each parent.

In SCD, the red blood cells that would ordinarily be disc shaped are changed to a crescent or `Sickle` Shape. This affects their flexibility and ability to pass through narrow blood vessels and supply oxygen to other cells and tissues. Sickle cell anaemia is an inherited form of deficiency in the red blood cell often seen in patients with sickle cell disease. This disorder results from the inherited abnormal haemoglobin (the oxygen-carrying protein within the red, blood cells). The abnormal haemoglobin causes distorted (Sickle appearing under a microscope) red blood cells.

Sickle cell disease represents one of the most common monogenic blood disorders worldwide.

There are five possible scenarios of sickle cell gene inheritance:
• When both parents have sickle cell disease, then each child will have the disease as well.
• When only one parent has sickle cell disease, then each child will have sickle cell trait.

• When both parents have sickle cell trait, then each child has a:
– 50% chance to have sickle cell trait.
– 25% chance to have sickle cell disease.
– 25% chance to have normal haemoglobin.
• When only one parent has sickle cell trait, then each child has a:
– 50% chance to have normal haemoglobin.
– 50% change to has sickle cell trait.
• When one parent has sickle cell trait and other has sickle cell disease, then each child has a:
– 50% chance to have sickle cell trait.
– 50% chance to have sickle cell disease.
There are prenatal tests to check whether a baby inherited a gene for sickle cell disease (SS) or just the trait (AS).

Sickle Cell Disease and Fertility
Sickle cell disease effect fertility in both males and females, but more often in males than in females.

Impact of Sickle Cell Disease on Females Fertility

SCD is associated with delay in Puberty (sexual maturation), so women with SCD have unique risk factors that may impact their ability to conceive. This is because sickling affects so many organs and body system. It also increases the likelihood of complications during pregnancy. Increases risks may include infection in the urinary tract, kidneys and lungs.

Most women with sickle cell disease can get pregnant especially when young, but the condition can potentially affect a woman’s fertility due to:
• Ovarian dysfunction resulting from diminished blood and oxygen supply to vital organs which might disturb the production of key reproductive hormones. This, in turn, can deregulate menstrual cycle and increase the chances of infertility.

• Transfusion-induced iron overload this can lead to an imbalance in FSH and LH levels and hypothalamic-pituitary dysfunction, resulting in infertility.

• Premature ovarian failure, which brings about early menopause and leads to infertility, might occur after bone marrow transplant in some sickle cell women.

Effects of Sickle Cell Disease (SCD) on the Mother and Baby

During pregnancy, the episodes of sickle cell disease pain called Sickle Cell Crises tend to increase in frequency and severity. The mothers are put at an increased risk of stroke, pulmonary hypertension, anaemia, infections, and multi-organ dysfunction. SDC might also affect the developing baby due to an insufficient oxygen supply, resulting in severe anaemia, poor fatal growth, or low birth-weight.

Impact of sickle Cell Disease on Male fertility

Men with sickle cell disease often experience relative primary gonadal failure (hypogonadism), delayed or impaired sexual development. Several recent researches have proven that seminal fluid examination of men with sickle cell anaemia showed abnormalities with their sperm density, motility, and also their morphology was in the sub fertile/ infertile range as compared to normal men.

Primary testicular failure is marked by low levels of testosterone and infertility which results mainly from diseases or conditions that affect and destroy the testis. This low level of testosterone leads to fertility reduction, which is aggravated by impotence, secondary to frequent priapism (prolonged erection of the penis, usually without sexual arousal), and premature ejaculation which would further reduce their fertility potentials……………………………………… TO BE CONTINUED