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Gene & Protein in Disease Sickle cell disease’s journey

are among the chronic manifestations. Owing to possible interplay between pain, mental health outcomes, and the
confusion between hemolysis and hepatic markers disease itself is very important to ensure the well-being
and the resulting misinterpretation of results, severe of SCD patients. To minimize substance abuse, exploring
hepatic diseases, although rare in SCD patients, could be non-opioid options for pain management is very crucial in
underdiagnosed in SCD children. 90.91 In a retrospective these patients. 92
study on 616 patients in a university hospital, as high Depression and anxiety tremendously affect SCD patients
as 40% had a history of liver or biliary manifestations. and, consequently, increase pain and opioid use, decrease
Gallstones were found in 42% of them, although almost compliance with treatment, and disrupt the dynamics of
half of them were incidental discoveries. Iron overload was personal life. Nearly 20 – 50% of SCD patients experience
seen in 3% of the children. Severe hepatic crisis was also depression, and this has been attributed to the chronic
noted among some, although the incidence rate was less nature of the disease, psychosocial stressors, or the severity
than the general reported rate of 10%. 90 of the disease symptoms. Addressing mental disorders in

5.9. Thromboembolic complications SCD patients is imperative for holistic management and
improving their quality of life for a better outcome. 92
Venous thromboembolism (VTE) is one of the common
complications in SCD. The prevalence of VTE in SCD Research has shown the increased prevalence of
patients (25%) matches that with families affected by strong snoring, sleep-disordered breathing, and obstructive
thrombophilic defects. Incidence of VTE is cumulative, sleep apnea in SCD patients. These can cause cognitive
increases with age and the mean age ranges from 24 and behavioral problems and hence affect physical health.
to 37 years. 34-42 Prevalence data point toward a higher Sleep assessments and interventions are hence important
to be incorporated into comprehensive health-care testing
prevalence in females, although some studies have found for SCD patients. 92
that sex is not a risk factor for VTE. Prevalence of DVT in
a retrospective case–control study was seen in more than Stigmatization, influenced by opioid use for pain relief,
50% of the cases as compared with isolated pulmonary being black, having delayed growth or puberty due to the
embolisms. The high prevalence of VTE in SCD patients disease or its management, a socioeconomic status further
36
has been attributed to a hypercoagulable state, increased worsened by the cost of lifelong treatment and severity of
hospitalizations, asplenia, central venous catheterization, the disease, is another challenge faced by SCD patients. It
prevalence of ACS, and infection. can come from unexpected quarters, namely health-care
professionals, family, and friends, further adding to the
The rate of VTE has been reported to be 1.5 – emotional and mood disturbances in SCD. Compromised
2.5 times greater in pregnant than in non-pregnant SCD interpersonal relationships with family members and peers,
females. Hence, prophylactic anticoagulation is strongly functional impairment and neurocognitive deficits, and
recommended in SCD females who conceive. 36 workplace discrimination are among other psychosocial

5.10. Psychosocial impact challenges faced by SCD patients and their caretakers and
need to be considered while planning comprehensive care
SCD patients generally have a low quality of life due to the for such patients. 92
significant psychosocial impact of the disease on them.
While medical complications and frequent hospitalization 6. Treatment and management
negatively impact their life, these patients also face several
psychosocial challenges. 7,92 SCD treatment and management requires a
multidisciplinary approach and comprehensive care by
The cardinal feature in SCD, namely pain due to vas- an interprofessional team of health-care experts such as
occlusive crises, is challenging to manage for several hemoglobinopathy teams to not only educate patients and
reasons and increases psychosocial distress in these caregivers about SCD but also guide them on treatment
patients. First, opioids are the primary choice of treatment options such as standard treatment, curative treatment,
for chronic pain in SCD, but they have their own adverse psychological support, and social support. They also
effects, namely, constipation, addiction (leading to coordinate pediatric screening through transcranial
substance abuse), mast cell activation, and respiratory Doppler ultrasound, detections of iron overload or allo-
depression. Second, SCD patients experience different antibodies during transfusion programs, and referral to
levels of neuropathic pain, including hyperalgesia and specialists for complications such as organ dysfunction.
allodynia. Thirdly, pain affects behavior, mood, and The following subsections discuss the different standard
emotions and even induces catastrophizing in pediatric treatments and curative treatments in SCD. Gene therapy
as well as adult SCD patients. Understanding the complex in SCD is discussed in a separate section.

Volume 4 Issue 1 (2025) 6 doi: 10.36922/gpd.4361