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Items: 10

1.

Graft-versus-host disease, susceptibility to

Transplantation of hematopoietic stem cells is a successful therapy for some tumors derived from bone marrow precursors, such as certain leukemias and lymphomas, and it can be used to cure some primary immunodeficiencies and inherited hematopoietic stem-cell diseases. One of the major complications of allogeneic bone marrow transplantation is graft-versus-host disease (GVHD), in which mature donor T cells that contaminate the allogeneic bone marrow recognize the tissues of the recipient as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease. GVHD is particularly virulent when there is a mismatch of a major major histocompatibility complex (MHC) class I or class II antigen. Most transplants are therefore undertaken only when the donor and recipient are HLA-matched sibs or, less frequently, when there is an HLA-matched unrelated donor. However, GVHD also occurs in the context of disparities between minor histocompatibility antigens, and immunosuppression must be used in every stem-cell transplant (summary by Janeway et al., 2005). At the core of the immunogenetic basis for GVHD is the diversity of HLA, killer immunoglobulin-like receptors (KIRs; see 604936), and cytokine genes. HLA class I molecules function as ligands for natural killer cell inhibitory KIRs, indicating that GVHD results from a complex interplay between innate and adaptive immune responses. Cytokines may modulate the intensity of tissue injury and inflammation in GVHD, and therefore cytokine polymorphisms in either patient or donor or both may explain individual risks of GVHD (review by Petersdorf and Malkki, 2006). [from OMIM]

MedGen UID:
482307
Concept ID:
C3280677
Finding
2.

Hemoglobinopathy

A group of inherited disorders characterized by structural alterations within the hemoglobin molecule. [from MeSH]

MedGen UID:
42400
Concept ID:
C0019045
Disease or Syndrome
3.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
4.

Thalassemia

Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent. Thalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones. Doctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
21121
Concept ID:
C0039730
Disease or Syndrome
5.

Abnormality of blood and blood-forming tissues

Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells and platelets. Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. Other causes include other diseases, side effects of medicines, and a lack of certain nutrients in your diet. Types of blood disorders include. -Platelet disorders, excessive clotting, and bleeding problems, which affect how your blood clots. -Anemia, which happens when your blood does not carry enough oxygen to the rest of your body. -Cancers of the blood, such as leukemia and myeloma. -Eosinophilic disorders, which are problems with one type of white blood cell.  [from MedlinePlus]

MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome
6.

beta Thalassemia

Beta-thalassemia (ß-thalassemia) is characterized by reduced synthesis of the hemoglobin subunit beta (hemoglobin beta chain) that results in microcytic hypochromic anemia, an abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of hemoglobin A (HbA) on hemoglobin analysis. Individuals with thalassemia major have severe anemia and hepatosplenomegaly; they usually come to medical attention within the first two years of life. Without treatment, affected children have severe failure to thrive and shortened life expectancy. Treatment with a regular transfusion program and chelation therapy, aimed at reducing transfusion iron overload, allows for normal growth and development and may improve the overall prognosis. Individuals with thalassemia intermedia present later and have milder anemia that only rarely requires transfusion. These individuals are at risk for iron overload secondary to increased intestinal absorption of iron as a result of ineffective erythropoiesis. [from GeneReviews]

MedGen UID:
2611
Concept ID:
C0005283
Disease or Syndrome
7.

Congenital hemolytic anemia

Hemolytic anemia due to various intrinsic defects of the erythrocyte. [from MeSH]

MedGen UID:
1919
Concept ID:
C0002881
Disease or Syndrome
8.

Hemolytic anemia

A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES). [from MeSH]

MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
9.

Anemia

If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body. Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction. Conditions that may lead to anemia include. -Heavy periods. -Pregnancy. -Ulcers. -Colon polyps or colon cancer. -Inherited disorders. -A diet that does not have enough iron, folic acid or vitamin B12. -Blood disorders such as sickle cell anemia and thalassemia, or cancer. -Aplastic anemia, a condition that can be inherited or acquired. -G6PD deficiency, a metabolic disorder. Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache. Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
10.

beta^0^ Thalassemia

MedGen UID:
506753
Concept ID:
C0271980
Disease or Syndrome
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