Genetics of sickle cell disease

Sickle cell disease is inherited from parents. As sickle cell disease is a genetic disorder, at least one parent must have the sickle cell gene (sickle cell trait or disease). The other parent may have the sickle cell gene or another abnormal hemoglobin gene. DNA (deoxyribonucleic acid) determines genetics. Segments of the DNA Helix contain groups of amino acids (codes) which determine characteristics which are inherited from parents such as eye and hair color, height, blood type and disease. Sickle cell disease is not contagious rather hereditary. The bone marrow produces abnormal hemoglobin called Hemoglobin S (HbS). Instead of being dissolved like salt in water, it becomes like a crystal or polymer. This causes the cells to change shape and look like a crescent or a sickle. The sickle cells can get stuck and block blood vessels. The sickle cells are not flexible and can break apart in the circulation.   Abstract source
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Treatment options for sickle cell disease - chronic blood transfusions

Blood transfusions are scheduled and given on a regular basis (depending upon the requirement - usually every 4 to 6 weeks). The procedure may be done for months to years as per the doctor’s prescription. Transfused red blood cells live about 50 to 60 days whereas sickle cells live only 10-20 days. This therapy is given to patients who are at risk of stroke, have a history of stroke, and in conditions when there is chronic pain that is hard to control, etc. Transfusions to treat acute complications with presence of symptoms are not chronic transfusions and are not given on a regular basis.   Abstract source
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Birth control and pregnancy

If you are sexually active, it is very important for you to prevent an unplanned pregnancy – talk to your doctor!   Female Birth Control:  • It is generally safe for females with sickle cell to use contraceptives. • Combined oral contraceptives may increase the risk of blood clots. • Progesterone, a form of birth control, may help to decrease pain crisis related to your period.    Male Birth Control: • Condoms must be used at all times to prevent pregnancy • Abstinence (no sex) - Prevents any chance of pregnancy • Talk to your doctor and your partner It is better to discuss with your doctor about the safety of any contraceptive method before using it.   Abstract source
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Sickle cell disease and education

It is often observed that sickle cell disease creates gaps in education. The condition affects the ability of a child to attend school regularly, learn and remember, focus or concentrate on school work, etc. Before getting into a college, a person should consider certain things such as: • Availability of a sickle cell clinic near the college • How far away is the hospital • Who will help during crisis • Transportation facility • It is also advisable to keep in contact with your healthcare team  • Students should keep their teachers educated about their condition.   Abstract source
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Psychosocial support in sickle cell disease

Patients of sickle cell disease may, sometimes, feel low and anxious due to their condition. Therefore, psychological support is provided to them. They may feel pain and anxiety which may result in: • Lack of sleep • Lack of to fulfillment of daily activities • Lack of expression • Act moody • It also affects a person’s thoughts and psychology Psychosocial behavior of a patient changes because he is not able to express himself. Psychologists or counselors can help the patient during these difficult times. Psycho-education and cognitive behavioral therapy are some ways which can help the patient to deal with emotions and conditions.   Note: To read the full article, READ MORE will take you to the Sickle Options home page. From there, click Visitor; Sickle cell disease and supportive care; Psychosocial. Abstract source
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Sexual health after transplant

Not everyone experiences these changes, but in a study by Syrjala et al, nearly half of men and 80 percent of women reported lower sexual activity five years after transplant.   Sexual difficulties in women after transplant: • The chemotherapy and/or total body irradiation (TBI) received before transplant can cause premature ovarian failure (less common in women who undergo a reduced intensity transplant), early menopause, etc. • The problems often reported by women after transplant might include pain during sex, worries about germs and infection, etc.   Sexual difficulties in men after transplant: • The chemotherapy and/or total body irradiation (TBI) before transplant can reduce testosterone (most men recover normal levels within two years) damage small blood vessels or nerves in the penis over time, etc. • Some men report problems after transplant such as problems getting and/or keeping an erection, change in body image/perceived attractiveness, etc.   Abstract source
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Vaccinations after hematopoietic cell transplant

Hematopoietic cell transplant recipients may remain immunocompromised far beyond 2 years post-transplant, especially individuals with chronic graft-versus-host disease (GVHD). Therefore, post-transplant patients should be routinely revaccinated after transplant until they regain immune competence. The vaccination schedule below is based on international consensus guidelines for preventing infectious complications among all transplant recipients and is recommended for both autologous and allogeneic hematopoietic cell transplant (HCT) recipients.   Recommended Vaccinations: • Pneumococcal Conjugate  • Tetanus, Diphtheria, Acellular Pertussis • Haemophilus Influenzae Conjugate • Meningococcal Conjugate • Inactivated Polio • Recombinant Hepatitis B  • Inactivated Influenza • Measles-Mumps-Rubella   Abstract source
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Fertility

If you might want to have children in the future, tell your doctors before you start treatment for your disease if possible. Before any treatment and therapy, the patient should discuss with the doctors about the chances of having children. Chemotherapy and radiation can reduce a person’s fertility (ability to have children). But, even if some treatment is already taken, there might be chances having children.  Some patients consider freezing sperm, eggs or embryos as it can take time for them to plan for this process. Some couples are able to have a baby using donated sperm or eggs, and others may choose to adopt. Doctors can suggest the best according to the situation.  Not all patients become infertile (unable to have children). Some have had children without freezing their sperm, eggs or embryos. If someone does not want to have children, birth control is an effective option.    Abstract source
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Sickle Cell Clinic at MLK Jr

The outpatient sickle cell clinic at MLK Jr is dedicated to providing the best care possible for adults with sickle cell disease living in the Los Angeles area. The clinic will fill a major gap in expert health care services for over 1,000 Los Angelino adults with this devastating disorder who are not only African American, but also Hispanic, South Asian and of Middle Eastern descent. The development of multidisciplinary SCD services at MLK was initiated by the Pacific Sickle Cell Regional Collaborative, a new federal project that is introducing a regional approach to expand healthcare access for patients throughout eight Western United States. Official website
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