Guide to Genetic Health Problems in Females

Genetic disorders result from any defect in an individual’s genetic health problems composition. It can range from minor to substantial, depending on whether there is a modest mutation in a single gene’s DNA strand or an extensive abnormality of the entire chromosome or set of chromosomes. It is important to recognize women’s health issues. 

Some genetic disorders are passed down from parents, run in families, or occur randomly due to mutations or alterations in a single gene or collection of genes. It could be due to environmental factors, pollutants, chemical exposure, radiation, etc.

The following factors raise the chance of genetic disorders:

  • After 35 years of age, the incidence rises dramatically.
  • History of the family
  • Miscarriages and birth abnormalities have occurred in the past.
  • Have a history of cancer and have received chemo/radiotherapy.

Before planning a pregnancy or receiving treatment, these patients should seek pre-genetic disorder counseling. They should have pre-genetic tests to determine the likelihood of passing the disease on to the child.

Genetic health problems are more common in women. However, some tests may help detect them. Women’s health issues are a significant concern to society.

This illness group includes ovarian cancer, breast cancer, cardiovascular disease, diabetes, and obesity, which are serious public health concerns that disproportionately or primarily affect women. The genes are the body’s blueprint and the basic physical and functional unit of heredity. A few people give genetic disorders or anomalies that may influence their health much thought. 

Women, in particular, are unaware of how much their genes influence their health and how to avoid hereditary illnesses to ensure a healthy life.

The most common genetic disorders or genetic health problems in females are as follows: 

  • Chromosomal aneuploidy in expecting moms’ babies: A circumstance in which a cell’s chromosomal number is wrong. Suppose a mistake occurs during the normal fertilization process. In that case, the number or structure of chromosomes might vary, resulting in an offspring with birth abnormalities due to the atypical structure or number. 

The most prevalent type of abnormality is trisomy 21, sometimes known as Down syndrome, caused by an extra chromosome 21. These alterations in the fetal condition can be detected via genetic disorder screening and diagnostic testing, and pre-and post-test counseling. These include noninvasive screening tests such as NIPT and parental karyotypes and invasive diagnostic procedures.

  • X-linked hereditary illnesses: Certain disorders are X-linked, which indicates that a female with two X chromosomes will be a carrier, but her male offspring will be affected because men only receive one X chromosome from their mother and one Y chromosome from their father. Knowing if you’re a carrier before getting pregnant can help you plan genetic counseling. Testing is necessary for illnesses such as Fragile X, Hemophilia, and Duchenne Muscular Dystrophy, among others.
  • Screening for hematological disorders: Couples must be tested to see if they are carriers of hematological disorders, including thalassemia and sickle cell disease. Consanguinity raises the chances of inheriting a recessive genetic condition by about 25%.

A carrier screening test can assist avoid the transmission of both X-linked and thalassemia and sickle cell anemia. It also aids couples in better understanding and planning for their future. This comprehensive test screening can identify disease-causing mutations in over 2,000 genes.

  • Recurrent pregnancy loss (RPL): is characterized as three or more consecutive pregnancy losses before the 20th week after the last menstrual period. RPL affects 1% to 2% of pregnant women, according to epidemiological research. Recurrent pregnancy losses are caused by genetic health problems in roughly 2-5 percent of cases. Chromosomal or genetic disorders cause the majority of cases of pregnancy losses. The oddity could have been caused by an early embryo, egg, or sperm.

There are genetic tests that can assist in determining if the pregnancy loss was caused by an incorrect number of chromosomes and provide information on how to plan and support a future pregnancy.

  • Hereditary breast and ovarian cancer: Mutations in the BRCA1 and BRCA2 genes cause around 15% of all ovarian cancers and 7% of all breast cancers in women. We now have predictive testing for this, such as BRCA1 and BRCA2 gene tests. Early detection may save lives, but it can also save money on advanced treatment.

Bottom Line

Women have been shown to live longer than men. According to the World Health Organization, women have a life expectancy of 74.2 years, while males usually have a life expectancy of 69.8 years (WHO). On the other hand, women consume more health services, have more disabilities, and have less social protection. Similarly, some disorders are unique to women’s health issues and are associated with female organs.

In addition to these, genetic health problems impact women’s health issues differently. Women are more likely than men to get them at a younger age. In fact, women and men may have different symptoms and, as a result, require different treatments for the same disease.


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Natasha Patel

Natasha Patel is the senior writer for the women’s health edition at She worked as a primary care provider before joining the writer’s panel of the blog. She is also trained in routine obstetrics and continues to practice in Oklahoma, where she lives with her family.