学习新生儿或孩子有sickle cell disease (SCD)is shocking and can cause confusion, anger and fear. Like most parents, you may feel responsible or blame yourself for “giving” your child a disease.
当孩子被诊断出患有遗传状况，无论是镰状细胞疾病还是任何其他遗传性疾病时，这种感觉都是自然的。但是，了解有关SCD的更多信息可能会帮助您与其中的一些感觉达成协议，并帮助您对照顾孩子的自信。
According to the Centers for Disease Control and Prevention (CDC),目前约有100,000名美国人受SCD的影响—and millions worldwide. While the disease is common, it’s often misunderstood.
在...的帮助下Naresh Reddivalla,MD, a pediatric hematologist and oncologist at横幅儿童癌症和血液疾病诊所在亚利桑那州，我们回答了八个常见的问题，有关疾病和您可以采取的步骤，以帮助您的孩子成长健康。
What is sickle cell disease?
Sickle cell disease is a condition that affects cells in the blood called red blood cells. The red blood cells carry oxygen to organs in the body using a protein called hemoglobin.
Healthy red blood cells are round and donut shaped. They are flexible enough to fit through small blood vessels. In those with SCD, some of the red blood cells are abnormal which causes them to become hard and sticky—resembling a crescent moon or a farm tool called a “sickle.” As these sticky cells travel through small blood vessels, they can get stuck and clog blood flow. This blockage can lead to pain and other serious health complications, such as infection, acute chest syndrome, jaundice and stroke.
“Red blood cells change to a sickle shape when oxygen levels in the body are low and usually return to a normal round shape when they get more oxygen, often when passing through the lungs,” Dr. Reddivalla said. “After a while, however, these cells aren’t able to change back to their original shape and lose their ability to carry oxygen.”
正常的血细胞生存约120天，而镰状细胞仅活20天。某些事情会导致红细胞厌恶和血流阻塞。这些包括感染，脱水，体温突然变化，压力和大量的身体劳累。
What causes sickle cell disease?
SCD is an inherited genetic disease and isn’t a transmitted or contracted disease.
“There is a misconception that sickle cell disease can be transmitted by blood transfusions or is contagious,” Dr. Reddivalla said. “Both are untrue.”
仅当您从两个亲生父母那里继承一个或多个错误的基因时，才能拥有SCD。如果您从一个父母那里继承了一个错误的基因，但不是另一个父母，您将拥有所谓的镰状细胞性状（载体），而不是镰状细胞疾病。但是，如果每个父母的基因有故障，则会有SCD。
For parents who carry a sickle cell trait, there is a25% chancewith each pregnancy of having a child with the disease. There’s also a 50% chance of having a child with sickle cell trait with no disease, and a 25% chance of your child having no trait of the disease at all.
SCD的最常见类型是：
- HBSS：当孩子从父母双方继承S基因时，镰状细胞贫血或SS病就会发生。这是最严重的疾病形式。
- HBSC：Sickle-hemoglobin C or SC disease occurs when a child inherits an S gene from one parent and a C gene from the other parent
- HBS Beta thalassya：当一个孩子从一个父母那里遗传了s基因和β地中海贫血的基因（另一种类型的血红蛋白缺陷），从另一位父母那里就发生这种疾病。有两种类型的beta thalassya，零或加上。那些零心理症的人通常具有严重的SCD形式，而那些患有甲性甲性疾病的人则具有较轻的SCD形式。
There are a few other rare types of SCD, including HbSD, HbSE and HbSO, where a child inherits one hemoglobin S gene and one gene that codes for another abnormal type of hemoglobin (D, E or O).
谁有镰状细胞疾病的风险更高？
另一个误解是SCD仅发生在黑人/非裔美国人群体中，这是不正确的。
“Although SCD is more common in African Americans, it can also affect people of Caribbean, Middle Eastern, eastern Mediterranean, Hispanic and Asian origin.” Dr. Reddivalla said.
如何诊断镰状细胞疾病？
SCD is diagnosed with a simple blood test. In the U.S. most children with SCD are diagnosed during a newborn screening.
Reddivalla博士说：“在所有50个州都要求筛查新生儿的镰状细胞疾病，并通过刺激婴儿的脚跟进行筛查。”“该血液检查还寻找其他各种健康障碍，这些疾病在出生时没有发现。”
If you or your partner has SCD or sickle cell trait, you can haveprenatal testingto find out if your baby has SCD or sickle cell trait. To find out whether or not you or a partner is a carrier, blood tests can be done to screen.
SCD的早期诊断和治疗对于帮助防止感染和其他健康问题很重要。
How is sickle cell disease treated?
When it comes to treatment, your child’s health care team will consider their age, overall health and other factors when determining the best treatment.
Treatment may include:
- 减少疼痛等并发症的药物：
- Hydroxyureais an oral medication started at the age of 9 months. It has been shown to reduce the majority of SCD complications like pain crises, acute chest syndrome, blood transfusions and hospitalizations. It can also lead to an improved quality of life and daily functioning. “Overall, the medication is very well-tolerated with minor side effects, which can be prevented with close monitoring,” Dr. Reddivalla said.
- crizanlizumabis FDA-approved for patients more than 16 years old who have acute pain crises that don’t respond well to hydroxyurea. This medication is given once monthly via infusion and has shown to decrease pain crises and hospitalizations.
- L-谷氨酰胺is an approved drug that helps reduce the frequency of pain crises.
- Vaccinations and antibiotics to prevent infections.Vaccines can protect against harmful infections like the flu, bacterial sepsis, meningitis, pneumonia andCOVID-19。Medications like penicillin prophylaxis can greatly reduce the risk of infection.
- 叶酸补品, a B vitamin that helps make red blood cells.
- Blood transfusionsto help treat anemia and prevent stroke.
镰状细胞疾病可以治愈吗？
The only cure for sickle cell disease ishematopoietic stem cell transplantor bone marrow transplantation and gene therapy.
Bone marrow is a soft, fatty tissue inside the center of the bones, where blood cells are made. A bone marrow or stem cell transplant takes healthy cells from one person – a donor – and puts them into someone whose bone marrow isn’t working properly.
Most transplants are performed on children, and the most common reasons include:
- 由于SCD，该孩子的并发症发生了严重的并发症，例如频繁的疼痛发作，急性胸部综合征，中风或对羟基脲反应。
- The child has a sibling who doesn’t have SCD and has a closely matched bone marrow.
Transplants are risky and can have some complications, but we’ve seen improved survival and better transplant outcomes when the donor is a sibling (a fully matched brother or sister),” Dr. Reddivalla said. “An unrelated donor or haploidentical donor (typically parents or half matched siblings) carry high risk for transplant-related complications but recent clinical studies are showing good outcomes with improved supportive care after bone marrow transplant.”
基因治疗can also be used to cure sickle cell disease. This therapy edits or changes the faulty DNA in the hemoglobin genes to stop the disease by fixing the abnormal gene. To begin this therapy, doctors collect bone marrow cells from a patient with SCD and modify the cells outside the body to correct the abnormality. Then the modified cells are injected back into the patient.
尽管目前无处可用于SCD的基因疗法，但取得了很大的进展。Reddivalla博士说：“如果成功的话，这将使我们能够治愈大量的患者，而不是目前接受骨髓或干细胞移植的治疗。”
What can I do to help my child stay healthy?
您可以在家中采取一些简单的步骤，以帮助预防和减少疼痛危机的发生。
- Eat a healthy diet with lots of fruits, vegetables, whole grains and protein.
- Drink plenty of water每一天。脱水可以增加孩子的国际扶轮sk for pain crisis.
- Avoid temperature extremes. Exposure to extreme heat or cold can increase their risk of crisis.
- Exercise regularly, but don’t overdo it. Talk to your child’s health care team about how much exercise is appropriate.
- Get regular dental and eye exams.
- Wash hands often避免生病的人。
- 不要抽烟and avoid secondhand and第三次吸烟。
镰状细胞病儿童的前景是什么？
Advances in preventive care and new medicines have reduced the life-threatening problems associated with SCD. While people with SCD tend to have a shorter life expectancy than those without the condition, currently95% of patientsin the U.S. live well into adulthood.
Reddivalla博士说：“在综合护理机构中，包括新生儿筛查，免疫，抗生素，羟基脲以及对疾病并发症的更快预防和治疗的综合护理，镰状细胞贫血和预后的生存一直在稳步改善。”“在可获得综合护理的地区，该疾病已从致命的小儿疾病转变为经常与生活质量和器官功能逐渐下降有关的慢性疾病。”
Takeaway
镰状细胞疾病（SCD）是美国最常见的遗传性血液疾病，患有像SCD这样的危重疾病的孩子可能会令人担忧，但有希望。得益于早期的干预和治疗，患有这种疾病的儿童继续过着充实而积极的生活。
If you have questions or concerns, talk to your child’s health care provider or locate a Banner Health specialist who can help. You can visit bannerhealth.com to寻找横幅健康专主頁(欢迎您)家在你旁边。
