DNA strand intertwined with a weeping willow tree, symbolizing recurrent pregnancy loss

Decoding Recurrent Pregnancy Loss: Are Your Genes to Blame?

Reese Marlowe in Health & Wellness November 2025 • 4 min read.

"Uncover the hidden genetic factors behind recurrent pregnancy loss and what you can do about it. Is it rs5918, rs1800790, or other Thrombophilia gene variants?"

Experiencing the loss of a pregnancy can be devastating, but when it happens repeatedly, the emotional toll is unimaginable. Recurrent pregnancy loss (RPL), defined as two or more consecutive spontaneous abortions before the 22nd week of gestation, affects approximately 5% of all pregnancies. While the causes of RPL can be complex and varied, genetics often play a significant role.

One potential culprit lies in thrombophilia, a condition characterized by an increased tendency to form blood clots. Genetic variations in genes involved in blood coagulation can disrupt the delicate balance required for a healthy pregnancy, leading to placental thrombosis, detachment, and ultimately, pregnancy loss.

Researchers have been diligently investigating specific gene variants associated with RPL. Among these, variations in the human platelet antigen 1 (HPA-1) gene and the fibrinogen beta chain (FGB) gene have emerged as potential key players. In a recent study, scientists delved deeper into the connection between these genetic variations and RPL, offering valuable insights for women struggling with this heartbreaking issue.

HPA-1 and Fibrinogen: What Role Do They Play in Pregnancy?

DNA strand intertwined with a weeping willow tree, symbolizing recurrent pregnancy loss

The study, led by Fatemeh Karami, Maliheh Askari, and Mohammad Hossein Modarressi, focused on two specific genetic variations: rs5918 (T>C) in the HPA-1 gene and rs1800790 (G>A) in the FGB gene. These genes are critical components of the coagulation process.

Here’s why these genes are important:

Human Platelet Antigen-1 (HPA-1): This resides on glycoprotein GPIIIa, forming an integrin complex vital for platelet activation and thrombosis. The rs5918 polymorphism can trigger autoimmune responses or enhance receptor responsiveness, leading to undesired blood clot formation.
Fibrinogen Beta Chain (FGB): A key element in the coagulation pathway, it regulates endothelial activity and platelet aggregation. The rs1800790 polymorphism has been linked to increased fibrinogen levels, potentially promoting thromboembolic disorders.

To investigate the association between these genetic variations and RPL, the researchers analyzed blood samples from 110 women with a history of at least two consecutive spontaneous abortions and compared them to 110 healthy women with no such history. The study employed polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to identify the specific genotypes of the rs5918 and rs1800790 variants in both groups.

Implications and Future Directions

While this study sheds light on the potential role of HPA-1 and fibrinogen gene variations in RPL, further research is needed to fully understand the complex interplay of genetic and environmental factors. Larger studies, considering additional factors such as gestational week of abortion, lifestyle, and ethnicity, are essential to confirm these findings and identify potential therapeutic targets.

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Everything You Need To Know

What role do the human platelet antigen-1 (HPA-1) and fibrinogen beta chain (FGB) genes play in pregnancy, and why are they being studied in relation to recurrent pregnancy loss?

The human platelet antigen-1 (HPA-1) gene and the fibrinogen beta chain (FGB) gene are critical components of the coagulation process. HPA-1, found on glycoprotein GPIIIa, is vital for platelet activation and thrombosis, while the FGB gene regulates endothelial activity and platelet aggregation. Variations in these genes, such as rs5918 in HPA-1 and rs1800790 in FGB, can disrupt the delicate balance required for a healthy pregnancy. Specifically, rs5918 may trigger autoimmune responses or enhance receptor responsiveness, leading to undesired blood clot formation, and rs1800790 has been linked to increased fibrinogen levels, potentially promoting thromboembolic disorders, increasing the risk of recurrent pregnancy loss.

How might variations like rs5918 in the HPA-1 gene or rs1800790 in the fibrinogen beta chain gene contribute to recurrent pregnancy loss?

Variations like rs5918 in the human platelet antigen-1 (HPA-1) gene and rs1800790 in the fibrinogen beta chain (FGB) gene can disrupt the coagulation process. The rs5918 polymorphism in HPA-1 can trigger autoimmune responses or enhance receptor responsiveness, leading to unwanted blood clot formation. Similarly, the rs1800790 polymorphism in FGB has been linked to increased fibrinogen levels, which can promote thromboembolic disorders. These disruptions can lead to placental thrombosis and detachment, ultimately resulting in pregnancy loss.

What did the study by Karami, Askari, and Modarressi reveal about the genetic links to recurrent pregnancy loss, specifically regarding the rs5918 and rs1800790 variants?

The study by Fatemeh Karami, Maliheh Askari, and Mohammad Hossein Modarressi investigated the association between genetic variations and recurrent pregnancy loss (RPL). It focused on two specific genetic variations: rs5918 (T>C) in the human platelet antigen-1 (HPA-1) gene and rs1800790 (G>A) in the fibrinogen beta chain (FGB) gene. The study analyzed blood samples from 110 women with a history of at least two consecutive spontaneous abortions and compared them to 110 healthy women, employing PCR-RFLP to identify the genotypes of the rs5918 and rs1800790 variants in both groups, shedding light on their potential role in RPL.

Besides the HPA-1 and fibrinogen beta chain genes, what other genetic or environmental factors might contribute to recurrent pregnancy loss, and why is it important to consider these?

While variations in the human platelet antigen-1 (HPA-1) and fibrinogen beta chain (FGB) genes are implicated in recurrent pregnancy loss (RPL), other genetic and environmental factors also play a role. These include other thrombophilia gene variants (like rs1800790), gestational week of abortion, lifestyle, and ethnicity. Comprehensive studies are essential to understand the complex interplay of these factors. Future studies considering these elements are needed to confirm findings related to HPA-1 and FGB and identify potential therapeutic targets for RPL.

If someone experiences recurrent pregnancy loss, what steps can they take in terms of genetic testing or consultation based on the knowledge of genes like HPA-1 and fibrinogen beta chain?

If someone experiences recurrent pregnancy loss (RPL), understanding the potential role of genes like human platelet antigen-1 (HPA-1) and fibrinogen beta chain (FGB) can be beneficial. Consulting with a healthcare provider or a genetic counselor is crucial to discuss genetic testing options that may include screening for variations in these genes, such as rs5918 in HPA-1 and rs1800790 in FGB. Understanding whether these specific genetic variations are present can help inform decisions about potential interventions or treatments, though it's important to remember that RPL is often multifactorial, and these genes may only represent one piece of the puzzle.