A Psychotherapy Case Study of Marriage-Related Health Anxiety in a Young Woman with Beta-Thalassemia Trait in Pakistan

Introduction

Genetic carrier conditions occupy a unique position in mental health practice because they are medically benign for the carrier yet carry profound implications for marriage, reproduction, and family planning. Beta-thalassemia trait is one such condition. Carriers are typically asymptomatic or mildly anemic, but when two carriers have children together, each pregnancy carries a 25% chance of beta-thalassemia major, a serious, transfusion-dependent blood disorder (Modell & Darlison, 2008; World Health Organization, 2023). Pakistan has one of the highest carrier rates of beta-thalassemia trait in the world, estimated at 5% to 7% of the population, compounded by a consanguineous marriage rate of approximately 60%, which substantially increases the likelihood of carrier-carrier unions within extended families (Ahmed et al., 2002; Bittles, 2001).

Cousin marriage in Pakistan is frequently arranged in childhood to preserve family wealth and social ties, and such engagements are often treated as binding long before either party reaches adulthood (Hussain & Bittles, 1998). When a genetic carrier diagnosis emerges after such an engagement is established, families are often unprepared to reconsider it. Premarital genetic screening for beta-thalassemia trait is increasingly recommended in Pakistan, yet uptake remains limited by low health literacy and reluctance to challenge existing marriage commitments (Ahmed et al., 2002).

For the individual carrier, particularly a young woman facing an arranged marriage she may not personally desire, the diagnosis can become a focal point for significant health anxiety, compounded by family pressure, fear of disappointing parents, and uncertainty about her own reproductive future. This case illustrates the psychotherapy process used to support a young woman with beta-thalassemia trait and her family in navigating health anxiety, family decision-making, and ultimately a decision regarding a childhood marriage engagement following premarital genetic screening.

Case Presentation

The client, referred to here as “Rabia” to protect confidentiality, was a 24-year-old, university-educated Pakistani woman referred for psychotherapy following a recent diagnosis of beta-thalassemia trait. Rabia had been engaged since childhood to her paternal cousin, an arrangement settled by both families years earlier and widely regarded within the family as a firm and unquestionable commitment.

Several months prior to her planned wedding, routine premarital blood testing revealed that Rabia carried beta-thalassemia trait. Her parents initially minimized the diagnosis, viewing it as a minor laboratory finding rather than a condition with implications for marriage and childbearing, and were reluctant to reconsider the engagement. Rabia, by contrast, reported that she had never felt fully comfortable with the arranged engagement to her cousin, and the genetic diagnosis intensified a pre-existing, unspoken desire to reconsider the marriage altogether.

Rabia presented with marked health anxiety, persistent worry about her diagnosis and its meaning for her future children, sleep disturbance, and tearfulness. She described feeling trapped between her own wishes, her diagnosis, and her family’s expectation. She expressed fear that raising concerns about the marriage would be perceived as dishonoring the family’s commitment. She was referred for psychotherapy by her hematologist to address her anxiety and to support family discussion regarding next steps, including the possibility of premarital genetic screening for her fiancé.

Clinical Assessment

Rabia’s diagnosis had been established through a complete blood count showing mild microcytic, hypochromic anemia, followed by confirmatory hemoglobin electrophoresis and high-performance liquid chromatography (HPLC), showing an elevated Hemoglobin A2 fraction consistent with beta-thalassemia trait. A clinical interview and the Generalized Anxiety Disorder-7 (GAD-7) scale assessed her psychological presentation. Her GAD-7 score  of 15 indicated moderate to severe anxiety. The clinical interview further revealed prominent health-related worry, reassurance-seeking, and catastrophic thinking about her diagnosis and future family, consistent with a health anxiety pattern superimposed on marriage-related family conflict (Salkovskis & Warwick, 1986).

With informed consent, and after several sessions of family psychoeducation, her fiancé also underwent premarital genetic screening (complete blood count and confirmatory hemoglobin electrophoresis/HPLC), arranged with a consulting hematologist. Results confirmed that he, too, carried beta-thalassemia trait, meaning any child born to the couple would face a 25% chance of beta-thalassemia major, a 50% chance of carrier status, and a 25% chance of being unaffected (Modell & Darlison, 2008).

Family and Social Context

Rabia’s family placed considerable value on maintaining the engagement, both as a matter of family honor and to preserve close ties between the two branches of the extended family. Initial family sessions revealed significant resistance to reconsidering the marriage and limited understanding of genetic inheritance, alongside a tendency to view Rabia’s anxiety as excessive rather than reasonable. Stigma surrounding genetic conditions in Pakistan, including fears for the marriageability of Rabia’s siblings, further complicated the family’s willingness to discuss the diagnosis openly (Ahmed et al., 2002).

Clinical Formulation

Rabia’s presentation was conceptualized as health anxiety arising at the intersection of a genuine medical diagnosis, an unwanted arranged marriage, and a family system unprepared to reconsider a long-standing commitment. Her anxiety was maintained by catastrophic thinking, suppression of her own wishes regarding the marriage, and a family environment in which raising concerns felt like family betrayal.

From a family systems perspective, the family operated with rigid boundaries around the engagement decision and a communication pattern in which Rabia’s concerns were minimized rather than explored (Minuchin, 1974). Formulation therefore addressed both her individual anxiety and the family’s capacity to engage collaboratively with new genetic information.

Therapeutic Approach and Intervention

Treatment integrated individual psychotherapy for health anxiety with structural family therapy and genetic counseling-informed psychoeducation, delivered across fourteen sessions over four months. Table 1 summarizes the intervention plan and clinical focus of each component.

Therapeutic Process

Early sessions focused on validating Rabia’s health anxiety as a reasonable response to a diagnosis with genuine reproductive implications, while beginning to separate this anxiety from her longer-standing ambivalence about marrying her cousin. Health anxiety-focused cognitive behavioral therapy helped her challenge catastrophic beliefs about her carrier status and reduce repeated reassurance-seeking from family members and online sources.

Family sessions followed once Rabia felt able to discuss the diagnosis calmly. Genetic counseling-integrated psychoeducation, delivered jointly with the hematologist, shifted the family’s understanding of beta-thalassemia trait from a vague, stigmatized “blood problem” to a clearly explained condition with quantifiable implications for future children. Motivational interviewing was used with Rabia’s parents to explore their resistance to premarital screening, which stemmed largely from fear of what a positive result might mean for the engagement, rather than rejection of the diagnosis itself.

After several sessions, the family agreed to arrange screening for Rabia’s fiancé. When results confirmed he was also a carrier, family sessions shifted to processing this information using structural family therapy techniques, helping the family move from rigid insistence on the engagement toward a flexible, collaborative discussion incorporating both Rabia’s wishes and the genetic findings.

Cultural Considerations

This case highlights the intersection of genetics, marriage customs, and mental health in Pakistan. Cousin marriage carries considerable social significance, and reconsidering a childhood engagement is rarely a simple medical decision; it is a family decision layered with honor and loyalty (Hussain & Bittles, 1998). Carrier-carrier couples are not required to end an engagement; many proceed with informed awareness of the risk and access prenatal testing. In Rabia’s case, ending the engagement reflected her own pre-existing wishes and the family’s informed understanding of the genetic risk, not a medical mandate, and therapy supported the family’s own decision-making rather than directing a particular outcome.

Clinical Reflection

This case illustrates that health anxiety related to a genetic carrier diagnosis cannot be effectively addressed through individual therapy alone when entangled with family decision-making and marriage arrangements. Working with the family system, not only with Rabia individually, was essential to reducing her anxiety and enabling an informed family decision. The case also underscores the value of collaboration between psychotherapy and hematology, since genetic counseling-integrated psychoeducation was most effective when delivered jointly with the treating hematologist.

A further lesson concerns separating a client’s health anxiety from her underlying relational wishes. Had Rabia’s reservations about marrying her cousin been attributed solely to anxiety about her diagnosis, her long-standing ambivalence about the marriage might have gone unaddressed. Distinguishing anxiety to be treated from a value-based decision to be respected was central to supporting her autonomy.

Treatment Outcomes

By the final session, Rabia’s GAD-7 score had decreased from 15 to 6, reflecting a substantial reduction in health anxiety, and she reported improved sleep and reduced reassurance-seeking about her diagnosis. Family communication had shifted from rigid insistence on the engagement toward open, collaborative discussion incorporating both the genetic findings and Rabia’s own wishes. Following joint family sessions, the family and Rabia’s fiancé’s family mutually agreed to end the childhood engagement, citing both the combined genetic risk and Rabia’s clearly expressed preference. Rabia described feeling relieved, supported, and more confident in her ability to advocate for herself within her family.

Conclusion

This case demonstrates how psychotherapy can support a young woman and her family in navigating the intersection of a genetic carrier diagnosis, health anxiety, and an arranged marriage within the Pakistani cultural context. Integrating health anxiety-focused cognitive behavioral therapy, genetic counseling-integrated psychoeducation, motivational interviewing, and structural family therapy allowed Rabia’s anxiety to be treated while also supporting her family’s capacity to make an informed, collaborative decision. For therapists working with premarital genetic screening cases in consanguineous marriage contexts, the central lesson is that effective care must address the individual, the couple’s genetic risk, and the surrounding family system together, while respecting the client’s own voice within that system.