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Gene & Protein in Disease Sickle cell disease’s journey

6.1. Standard treatments the past 37 years. It is known to decrease the frequency of

In most cases, the mainstay of treatment is to prevent or painful episodes in adults and children. It preserves spleen
control symptoms and complications, particularly pain, function in infants and is beneficial in children with organ
hence early intervention to that effect is imperative. While damage due to sickling. It also decreases the frequency of
ACS episodes and transfusions by 50% in adults.
over-the-counter pain medications such as acetaminophen
or ibuprofen help treat mild or moderate pain, prescription However, it also causes short-term adverse effects
medications are necessary for severe pain. General care, in patients, with the most common among them being
hydroxyurea, and transfusion have been the standard myelosuppression, neutropenia, reticulocytopenia,
disease-modifying treatments for years now. In children decreased platelet count, and gastrointestinal suppression.
with SCD, penicillin prophylaxis has been recommended Hence, it is very important for physicians to know that
by the American Academy of Pediatricians to prevent hydroxyurea is contraindicated in pregnancy. 99
pneumococcal infections. In addition, in the past seven A platelet count of <80000, hemoglobin <6 g/dL,
years, three new disease-modifying treatments were and neutrophil count of <2500 can be dose-limiting on
approved, namely, L-glutamine in 2017 and crizanlizumab hydroxyurea. Agrawal et al. reviewed that despite
99
99
and voxelotor in 2019. 93,94 evidence of the efficacy of hydroxyurea in treating SCD,
the drug has not yet translated into effective therapy for
6.1.1. General care
the disease because of a lack of knowledge and unrealistic
Self-care at home by SCD patients and caretakers is apprehensions. The authors explain that although
imperative in pain management and prevention of pain cytopenia is a commonly reported adverse effect, severe
crises, particularly in young adults because pain episodes cytopenia is rare even at high doses in toxicity studies, and
are most reported from ages 19 – 39. Dehydration that although discussions are ongoing about the benefits
is most often the triggering factor for painful crises, versus risks, the risks of treatment are more acceptable
alongside exposure to cold, infection, or high altitude. than the risks of not treating the disease.
Hence, preventing pain episodes, maintaining good
hydration, and preventing infections are the mainstay of 6.1.3. Transfusion
self-care. Self-care strategies include regular check-ups, In addition to general patient care, blood transfusion
staying hydrated, eating healthily, getting adequate rest, remains an essential supportive and preventive measure
avoiding extremes of temperatures, avoiding high-altitude for SCD and strokes. 52-65,81-87 Blood transfusion improves
activities (e.g., trekking and mountain climbing), and the oxygen-carrying capacity of hemoglobin and
frequent hand-washing throughout the day. Penicillin hence microvascular perfusion because it decreases the
7,11
prophylaxis and pneumococcal polysaccharide vaccine percentage of HbS. However, the availability of fully
to prevent infection are discussed more at the end of this compatible blood is a limiting factor as is the risk of
section. iron overload, alloimmunization of RBCs, or hemolytic
transfusion reaction, more so with repeated transfusions.
6.1.2. Hydroxyurea
The goal of transfusion is to reduce the patient’s HbS
Hydroxyurea, a myelosuppressive agent, is the only effective by 30% and maintain the hematocrit (Hct) at <30%.
proven drug for decreasing the frequency of episodes Transfusion can be a simple, manual exchange or automated
of painful crises and one of the major current therapies exchange. The choice depends on whether the indication
available for SCD. Hydroxyurea works by inducing the is acute or chronic. Indications and contraindications of
formation of fetal hemoglobin, improving hydration in transfusion are discussed at the end of this section. 99
RBCs, causing neutropenia, and decreasing leukocyte
adhesion and pro-inflammatory markers. It induces Simple transfusion is the transfusion of allogeneic-
vasodilation by serving as a donor of nitric oxide. 95-99 packed red cells without autologous red cell removal. It
is the preferred method of transfusion, especially in acute
The standard therapy is a single undivided dose daily clinical scenarios because of the ease of using peripheral
of 10 – 15 mg/kg body weight/day. Dividing the dose is venous access and standard nursing. In adults, for a desired
likely to decrease compliance. The dose may be escalated increase in hemoglobin of every gram per deciliter, a simple
by 5 mg/kg every 4 – 6 weeks until a maximum of transfusion of one red cell unit is the recommended dose.
35 mg/kg body weight/day is reached, or the maximum In children, dosing is recommended by weight and or a
tolerated dose is evident, or an absolute neutrophil count desired increase in Hb of 2 – 3 g/dL; a simple transfusion
of 3000 – 4000 is achieved. The above-mentioned standard of 10 – 15 mL/kg is the recommended dose. In a chronic
dose of hydroxyurea is the gold standard of treatment over simple transfusion, three units of packed cells are the

Volume 4 Issue 1 (2025) 7 doi: 10.36922/gpd.4361