Browsing by Subject "Sickle Cell Disease"

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    Decision Making in Fertility Preservation Prior to Pursuing Curative Treatments for Sickle Cell Disease
    (2023-03-24) Collins, Angela J.; Noel, Josey; Abraham, Olivia; Hornberger, Sydney; Rahim, Mahvish Q.; Jacob, Seethal A.; Saraf, Amanda J.
    AUTHORS: Angela Collins, MPH(1), Josey Noel(1), Olivia Abraham(1), Sydney Hornberger(1), Mahvish Rahim MD, MBA, MSCR(1,2), Seethal Jacob MD, MS, FAAP(1,2), Amanda Saraf DO(1,2). AFFILIATIONS: (1) Indiana University School of Medicine, Indianapolis, IN. (2) Department of Pediatrics, Riley Hospital for Children, Indianapolis, IN. ABSTRACT: RELEVANT BACKGROUND: Sickle cell disease (SCD) is one of the most commonly inherited hemoglobinopathies, often well controlled on Hydroxyurea (HU). Curative therapy options exist with stem cell transplant (SCT) and gene therapy. While both the underlying condition and routine therapy such as HU is thought to impact fertility, the chemotherapy used for both SCT and gene therapy can result in permanent sterility. Infertility can have a negative impact on long-term measures of quality of life. As a result, fertility preservation ought to be offered to all patients with SCD planning for curative treatment. Ovarian tissue cryopreservation and mature oocyte or embryo cryopreservation are fertility preservation options available for pre and postpubescent females respectively. Testicular tissue cryopreservation (TTC) is an experimental option for prepubescent males and sperm cryopreservation is utilized for postpubescent males. CASE DESCRIPTION: We present three cases of patients with SCD who pursued fertility preservation prior to receiving curative therapy with a myeloablative preparative regimen. Patient 1 is a prepubescent 8-year-old male with SCD controlled with HU who opted for TTC as fertility preservation prior to receiving a matched sibling SCT. Patient 2 is a 13-year-old male with SCD controlled with HU who opted for TTC following a failed sperm banking attempt prior to haploidentical SCT. Patient 3 is an 18-year-old female with SCD controlled with HU and Voxelator who opted to have eggs harvested prior to gene therapy. CLINICAL SIGNIFICANCE: As highlighted by these cases, continued research on safe and effective fertility preservation as well as counseling about both the impact of the underlying disease on fertility and treatment-related fertility risks is imperative to improve long-term quality of life measures. CONCLUSION: These patients demonstrate a need for further emphasis on fertility risk counseling in this patient population and ensuring that discussions regarding preservation options is standard of practice at every institution.
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    Identifying Sickle Cell Disease Beyond the Neonatal Period: A Case Series
    (2025-03-28) Gupta, Soumya; Slaughter, Mary; Li, Katherine; Harter, Michaela; Goubeaux, Derrick L.; Drayton Jackson, Meghan
    Background: Sickle Cell Disease (SCD) is an autosomal recessive chronic condition that causes hemolytic anemia and vaso-occlusive episodes that can present as dactylitis, pain, acute chest syndrome (ACS), and other complications. For early detection and intervention, newborn screening (NBS) for SCD is mandated in all 50 states. However, this screening is not readily available in many other areas of the world. Case Description : Three children who immigrated from countries outside the United States were diagnosed with SCD beyond the neonatal period. A 17-year-old female adopted from Kenya presented to the ER with dyspnea after starting oral contraceptives and was found to have a pulmonary embolism. Hemoglobin (Hgb) was 8.1 g/dl. She rapidly deteriorated and required intubation. Bronchoalveolar lavage revealed straw-colored fluid, a rare finding consistent with ACS. Electrophoresis confirmed HbSS. A 7-year-old male from the Dominican Republic presented with pneumonia and pain. Hgb was 8.4 g/dl. There was familial anemia, but he had not received work-up due to insufficient insurance coverage. Electrophoresis showed HbSS. A 7-year-old male from Nigeria presented to the ED after an episode of gross hematuria. His baseline Hgb was 10 g/dl, and his mother had SCD. Electrophoresis showed HbSS. Clinical Significance: Sickle cell disease is a multisystem disorder with complications that can lead to severe illness. Physicians must maintain high clinical suspicion for SCD in patients who did not receive NBS presenting with recurrent pain, severe infection, end organ damage, or anemia. Diagnosis is confirmed with hemoglobin electrophoresis. Conclusion: This case series highlights the need for heightened SCD awareness, particularly in those from areas without universal NBS. Providers must obtain relevant family history, recognize SCD’s diverse presentations, and work to reduce healthcare access barriers to ensure that patients receive timely diagnosis and care.