先天性粒细胞贫血|症状和原因
What are the symptoms of congenital sideroblastic anemia?
儿童中先天性粒细胞贫血（CSA）的症状和迹象主要与贫血及其严重程度有关：
Some forms of CSA are associated with other symptoms or signs outside the blood system. These are referred to as syndromic CSAs. The associated symptoms can include:
- 发展延迟
- 耳聋
- vision loss
- muscle dysfunction (heart muscle and/or other muscles)
- 器官衰竭（例如肾脏和/或肝脏）
- immunodeficiency
- 发烧
- acidosis
CSA的原因是什么？
每种CSA类型都需要测试才能分离。重要的是要了解，CSA的某些症状可能类似于其他更常见的医学问题或其他血液疾病的症状。因为其中一些症状也可以指向其他疾病，并且由于贫血本身可能是另一个医疗问题的症状，因此请您的孩子由合格的医学专家评估，以便准确地评估您的孩子diagnosis and prompt treatment。
先天性粒细胞贫血|诊断和治疗
How is congenital sideroblastic anemia diagnosed?
The specific CSA diagnosis relies on an experienced clinician trained to recognize the characteristics of the anemia (e.g., red blood cell size: microcytic, normocytic or macrocytic), the age of child (or adult) when symptoms are first noticed, and other potential symptoms (such as muscle weakness).
CSA通常被诊断出：
- 血液检查，包括完整的血液计数
- 骨髓检查
- body iron measurements (by laboratory testing, radiology/imaging and/or biopsy of the liver)
- 分子测试（基因测序，蛋白质研究等）
所有测试完成后，血液学家将能够概述最佳治疗方案。
CSA有什么治疗方法？
根据儿童CSA的特定类型和病情的严重程度，血液学家可能建议各种不同的治疗方法。
医疗疗法
X-linked sideroblastic anemia (XLSA) can sometimes respond very favorably to treatment with vitamin B6. Unfortunately, none of the other CSAs are known to respond to vitamins or other medical therapies.
输血疗法
Blood transfusions may be given to treat severe anemia. Some children with CSAs may receive repeatedblood transfusions保持其血红蛋白水平足够高以进行常规活动。
铁螯合物
CSAs can result in gradual iron overload related to increased daily iron absorption from the gut. Children who have repeated red blood cell transfusions or require chronic transfusions can also quickly become iron overloaded. Without removal of this iron, through chelators, it can build up and become toxic to several vital organs. Children may take chelators orally or by injection in order to remove excess iron from the body.
干细胞移植
现在，某些CSA的唯一治疗方法是stem cell transplantfrom another person (donor) to your child. The best transplant outcomes are almost always when the donor is a healthy sibling with compatible stem cells. The stem cells replace the diseased stem cells and restore normal blood production. In the syndromic sideroblastic anemias, disease manifestations unrelated to the bone marrow disease do not get better after bone marrow transplantation.
由于干细胞移植也有风险，因此建议具有兼容全同伴供体的儿童与儿科干细胞医生会面，以了解有关该过程的更多信息。
CSA儿童的长期前景是什么？
The long-term outlook for children with CSA depends heavily on the specific type of CSA. A child with CSA will need regular follow-up care by a hematologist.