Diagnosing and Managing Hemophilia Carriers in Thailand Stressed in New Study

Hemophilia is a rare hereditary bleeding condition that can cause serious bleeding incidents, and its X chromosome–linked inheritance predominantly affects men while women are carriers. A retrospective analysis of women and girls from families with hemophilia in Thailand, published in The Application of Clinical Genetics, assessed the emotional impact of carrier and hemophilia diagnoses and emphasized the value of comprehensive management in this population.

“Women with hemophilia carrier status have experienced a wide range of emotional and psychosocial impacts, including feelings of guilt, sorrow, self-blame, and being stigmatized,” the authors wrote. “The religious beliefs and cultural acceptance involving fate in human life produces stigma and labeling concerning these women and girls.”

A total of 462 women and girls from 243 families with hemophilia were included in the study. In most cases, they were immediate relatives of mothers and sisters of patients with hemophilia. Each family had between 1 and 8 enrolled participants; 390 participants were from families with hemophilia A and 72 were from families with hemophilia B. Of the individuals identified for the study, 137 were obligate carriers and 325 were identified as potential carriers.

A combination of phenotypic analysis of coagulation factor and genotypic analysis of linkage status or mutation detection were used to confirm obligate carrier status. In the potential carrier group, 159 proven carriers and 146 noncarriers received a hemophilia diagnosis. Unavailable genetic analysis prevented diagnosis in 20 potential carriers.

Attitudes regarding future children varied among the women in the study who received a hemophilia diagnosis. Initially, 19 of 54 married women with at least 1 son with hemophilia and at least 1 unaffected child decided to undergo sterilization. Four single women who were potential carriers and 1 noncarrier decided to remain single, saying that hemophilia in a younger or older brother had already resulted in them being labeled a hemophilia carrier.

Prenatal diagnosis (PND) was requested by 49 women over 54 pregnancies from 1996 to 2021, all of whom were at risk of offspring with moderate or severe hemophilia. The PND results showed normal male offspring in 21 cases, males with hemophilia A in 12 cases, and females with either normal or carrier status in 21 cases. Some pregnant women opted to terminate pregnancies that would result in a son with hemophilia based on their PND, highlighting the cultural stigma associated with bearing a son with hemophilia.

Of 296 women and girls, 40 (13.5%) received a hemophilia diagnosis, including 2 with severe hemophilia A with Turner’s syndrome. Of this group, 27 were from families with severe hemophilia, 10 were from families with moderate hemophilia, and 3 were from families with mild hemophilia. Fifteen females were obligate carriers, and 25 were potential carriers.

When told about their diagnosis, most expressed thankfulness and were able to receive treatment with factor concentrate and desmopressin. They were able to use an identification card to receive treatment at their local hospital and were able to interact with the team at the International Hemophilia Training Center-Bangkok via a 24-hour telephone hotline.

The study highlights the importance of psychosocial support for women who may be hemophilia carriers, as well as the importance of diagnosing carrier status or hemophilia in women and girls in Thailand.

Reference

Chuansumrit A, Sasanakul W, Sirachainan N, et al. Three-decade successive establishment of care for women/girls from families with haemophilia. Appl Clin Genet. Published online October 1, 2022. doi:10.2147/TACG.S381683