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出版者:New York Academy of Sciences

作者:Cooley's Anemia Symposium (2005 Lake Buena Vista, Fla.)/ Vichinsky, Elliott P.

出品人:

页数:0

译者:

出版时间:

价格:140

装帧:HRD

isbn号码:9781573315807

丛书系列:

图书标签:

• 贫血
• 库利贫血
• 遗传病
• 血液病
• 地中海贫血
• 诊断
• 治疗
• 基因
• 医学
• 健康

Cooley's Anemia Cooley's Anemia, also known as thalassemia, is a group of inherited blood disorders characterized by reduced or absent synthesis of the beta-globin chains of hemoglobin. This deficiency leads to an imbalance in the production of hemoglobin, resulting in ineffective erythropoiesis and the destruction of red blood cells, a condition known as hemolytic anemia. Genetic Basis and Pathophysiology: Thalassemia is an autosomal recessive genetic disorder caused by mutations in the HBB gene, which encodes the beta-globin subunit of hemoglobin. The severity of the disease depends on the specific mutation and the number of affected alleles. Alpha-thalassemia: Involves mutations in the HBA1 and HBA2 genes, which code for alpha-globin chains. Beta-thalassemia: Involves mutations in the HBB gene, which codes for beta-globin chains. When beta-globin synthesis is impaired or absent, the excess alpha-globin chains precipitate within the red blood cell precursors in the bone marrow, leading to ineffective erythropoiesis and apoptosis. The few red blood cells that do mature and enter the circulation are prematurely destroyed in the spleen and liver, causing chronic hemolytic anemia. The body attempts to compensate for the anemia by increasing erythropoiesis in the bone marrow. This leads to bone marrow expansion, which can cause characteristic skeletal deformities, such as frontal bossing and maxillary hypoplasia, as well as increased susceptibility to fractures. Extramedullary hematopoiesis (blood cell production outside the bone marrow, primarily in the spleen and liver) also occurs, leading to splenomegaly and hepatomegaly. Clinical Manifestations: The clinical presentation of Cooley's anemia varies widely depending on the specific type and severity of the thalassemia. Thalassemia Minor (or Trait): Individuals with one affected gene are typically asymptomatic or have very mild anemia. They are carriers of the trait and can pass the gene to their offspring. The peripheral blood smear may show microcytosis and hypochromia, but the red blood cell count is often normal or slightly elevated. Thalassemia Intermedia: This form represents a spectrum of severity between thalassemia minor and major. Individuals may have moderate anemia, requiring occasional blood transfusions. They often experience complications such as bone deformities, hypersplenism, and gallstones. Thalassemia Major (Cooley's Anemia): This is the most severe form, typically presenting in infancy. Affected infants appear normal at birth but develop severe anemia within the first few months of life. Symptoms include pallor, jaundice, irritability, poor feeding, and failure to thrive. Without regular blood transfusions, untreated thalassemia major is usually fatal within the first decade of life. Complications: Chronic anemia and the body's compensatory mechanisms lead to a range of complications in individuals with thalassemia major: Iron Overload: Frequent blood transfusions, while life-saving, lead to the accumulation of excess iron in organs such as the heart, liver, and endocrine glands. This can cause significant organ damage, including cardiac dysfunction, liver fibrosis, diabetes, and hypothyroidism. Skeletal Deformities: Bone marrow expansion results in enlarged spleen and liver, characteristic facial features (e.g., prominent forehead, malar eminence, and dental crowding), and increased risk of pathological fractures. Splenomegaly and Hypersplenism: The spleen becomes enlarged as it attempts to remove damaged red blood cells. This can lead to hypersplenism, where the enlarged spleen sequers and destroys blood cells at an accelerated rate, worsening anemia and causing thrombocytopenia and leukopenia. Growth Retardation: Affected children often experience delayed growth and puberty. Infections: Individuals with thalassemia may be more susceptible to infections, particularly after splenectomy. Thrombosis: Despite anemia, individuals with thalassemia have an increased risk of thromboembolic events. Diagnosis: The diagnosis of thalassemia is primarily based on: Complete Blood Count (CBC): Reveals microcytic, hypochromic anemia with a high red blood cell count (in contrast to iron deficiency anemia). Peripheral Blood Smear: Shows characteristic red blood cell abnormalities, including target cells, poikilocytosis, anisocytosis, and basophilic stippling. Hemoglobin Electrophoresis: This is the gold standard for diagnosing thalassemia. It identifies the specific types of hemoglobin present and quantifies the proportions of normal and abnormal hemoglobin chains, helping to differentiate between alpha- and beta-thalassemia and determine the severity. DNA Analysis: Can identify specific gene mutations causing thalassemia, which is particularly useful for prenatal diagnosis and genetic counseling. Iron Studies: Assess iron levels to differentiate from iron deficiency anemia and monitor iron overload from transfusions. Management: The management of Cooley's anemia aims to correct the anemia, prevent complications, and improve quality of life. Blood Transfusions: Regular blood transfusions (typically every 2-4 weeks) are the cornerstone of treatment for thalassemia major, maintaining hemoglobin levels to suppress ineffective erythropoiesis and prevent severe anemia. Iron Chelation Therapy: To counter iron overload from transfusions, iron chelating agents (e.g., deferoxamine, deferasirox, deferiprone) are administered to remove excess iron from the body and prevent organ damage. Bone Marrow Transplantation (BMT) / Hematopoietic Stem Cell Transplantation (HSCT): This is the only curative treatment for thalassemia major. A successful transplant can restore normal hemoglobin production, eliminating the need for transfusions and chelation therapy. It is typically considered for young patients with severe disease who have a matched donor. Supportive Care: Includes management of growth and development, endocrine replacement therapy as needed, treatment of infections, and psychological support. Splenectomy: May be considered in cases of severe hypersplenism, but it carries increased risks of infection and thrombosis. Prognosis: With modern management, including regular transfusions and effective iron chelation, individuals with thalassemia major can live into adulthood and achieve a reasonable quality of life. However, long-term complications from iron overload and other factors can still occur. Bone marrow transplantation offers the potential for a cure, but its availability and success depend on various factors. Prevention and Genetic Counseling: Since thalassemia is an inherited disorder, genetic counseling is crucial for couples at risk of having children with thalassemia. Carrier screening through blood tests and DNA analysis can identify individuals who carry the thalassemia gene. Prenatal diagnosis using chorionic villus sampling (CVS) or amniocentesis allows for the detection of thalassemia in a fetus, enabling informed reproductive decisions.

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《Cooley's Anemia》的魅力在于它所传递的那种宁静而深刻的力量。与那些喧嚣浮躁的作品不同，这本书更像是一壶陈年的佳酿，需要细细品味，方能体会其中甘醇。作者以极其克制的笔触，描绘了主人公在平静中暗流涌动的内心世界。那些看似平淡的日常，却蕴含着巨大的情感张力。每一个人物都仿佛是从生活中走出来的人物，他们身上有着普通人的缺点和优点，但却都闪耀着独特的人性光辉。这本书最打动我的地方在于，它并没有刻意去制造戏剧冲突，而是将焦点放在了人物的内在成长和情感的微妙变化上。读完这本书，我感到一种前所未有的平静，仿佛经过了一场心灵的洗礼。它让我学会了在喧嚣的世界里，寻找内心的安宁，也让我更加懂得如何去关照身边的人。

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对于《Cooley's Anemia》这部作品，我只能用“震撼人心”来形容。它不像市面上很多作品那样，追求表面的跌宕起伏，而是深入到人性的最深处，挖掘那些最原始、最复杂的情感。作者以一种近乎冷酷的现实主义笔触，展现了主人公所面临的困境，没有回避任何痛苦和绝望。然而，正是在这种极致的黑暗中，我们看到了人性中最耀眼的光芒。书中对于社会现实的深刻批判也令人警醒，它迫使我们去思考那些隐藏在繁华都市下的阴影，以及我们对弱势群体的责任。这本书的阅读过程并非轻松愉悦，它会让你感到压抑，让你思考，甚至让你流泪。但正是这种沉重的体验，才显得这本书的价值更加弥足珍贵。它是一面镜子，映照出我们内心的脆弱和坚强，也映照出我们所处的社会。

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阅读《Cooley's Anemia》的过程，就像是在经历一场漫长而引人入胜的旅程。这本书的情节设计极为精巧，环环相扣，让我全程都保持着高度的专注。作者对于故事的推进把握得恰到好处，既有出乎意料的转折，又不乏情理之中的铺垫。每一个角色的塑造都立体而饱满，他们的动机和选择都显得真实可信，让我能够感同身受。书中对于人际关系的描绘尤其细腻，那些复杂的情感纠葛、微妙的信任与背叛，都让我仿佛亲身经历。此外，作者对于社会背景的刻画也十分到位，为整个故事提供了坚实的支撑。这本书的结尾更是留下了深深的余味，让人久久不能忘怀，并开始思考故事的多种可能性。总而言之，这是一部结构严谨、情节跌宕、人物鲜活的优秀作品，值得所有喜欢引人入胜故事的读者去探索。

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《Cooley's Anemia》的写作手法极为独特，它以一种意想不到的方式展开，不断地挑战着读者的认知和期待。我从未读过如此具有实验性又不失阅读流畅性的作品。作者巧妙地运用了非线性的叙事结构，将时间线打乱，却又以一种奇妙的方式将碎片化的信息巧妙地串联起来，形成了一幅完整而令人震撼的画面。这种叙事方式起初可能会让人感到有些困惑，但随着阅读的深入，你会逐渐沉迷其中，享受这种解谜般的阅读体验。书中的隐喻和象征随处可见，它们为故事增添了多层次的解读空间，每一次重读都会有新的发现。我尤其喜欢作者在语言上的创新，那些意象化的表达、富有诗意的句子，都如同精美的艺术品，令人回味无穷。这本书不仅是一次智力上的挑战，更是一次感官和心灵的盛宴。

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这本《Cooley's Anemia》给我留下了极其深刻的印象，其叙事的力量和情感的共鸣远超我的预期。从翻开第一页的那一刻起，我就被深深地吸引住了，仿佛置身于书中人物的命运之中，一同经历他们的喜怒哀乐。作者在描绘主人公的心路历程时，细腻而真实，没有丝毫的矫揉造作。我尤其赞赏作者对于细节的捕捉，那些微小的举动、眼神的交流，甚至是环境的描绘，都充满了生命力，让整个故事变得栩栩如生。阅读过程中，我常常会因为角色的遭遇而感到心痛，又会在他们克服困难时感到由衷的欣慰。这本书不仅仅是一个关于疾病的故事，更是一个关于坚韧、希望和爱的颂歌。它让我重新审视了生命本身的价值，也让我对那些身处困境却依然选择勇敢面对的人们充满了敬意。这本书带来的思考是长远的，它会在我未来的生活中不断回响，提醒我珍惜当下，善待他人。

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