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Items: 12

1.

Pyruvate kinase deficiency of red cells

Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. PK deficiency is also the most frequent enzyme abnormality of the glycolytic pathway (Zanella et al., 2005). [from OMIM]

MedGen UID:
336607
Concept ID:
C1849472
Disease or Syndrome
2.

Anemia

A reduction in erythrocytes volume or hemoglobin concentration. [from HPO]

MedGen UID:
56401
Concept ID:
C0162119
Finding
3.

Hydrops fetalis

The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. [from HPO]

MedGen UID:
6947
Concept ID:
C0020305
Disease or Syndrome
4.

Hemolytic anemia

A type of anemia caused by premature destruction of red blood cells (hemolysis). [from HPO]

MedGen UID:
504983
Concept ID:
CN001698
Finding
5.

Hydrops fetalis

The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. [from HPO]

MedGen UID:
504951
Concept ID:
CN001623
Finding
6.

Stillbirth

If a woman loses a pregnancy after she's past her 20th week, it's called a stillbirth. Stillbirths are due to natural causes. They can happen before delivery or during delivery. Causes include:. -Problems with the placenta, the organ that transports oxygen and nutrients to the fetus. -Genetic problems with the fetus. -Fetal infections. -Other physical problems in the fetus. In at least half of all cases, it is not possible to tell why the baby died. If stillbirth happens before delivery, your health care provider may induce labor or perform a Cesarean section to deliver the fetus. In some cases, you can wait until you go into labor yourself. This usually happens within two weeks of stillbirth. Counseling may help you cope with your grief. Later, if you do decide to try again, work closely with your health care provider to lower the risks. Many women who have a stillbirth go on to have healthy babies. NIH: National Institute of Child Health and Human Development.  [from MedlinePlus]

MedGen UID:
154536
Concept ID:
C0595939
Finding; Pathologic Function
7.

Edema

Edema means swelling caused by fluid in your body's tissues. It usually occurs in the feet, ankles and legs, but it can involve your entire body. Causes of edema include. -Eating too much salt. -Sunburn. -Heart failure. -Kidney disease. -Liver problems from cirrhosis. -Pregnancy. -Problems with lymph nodes, especially after mastectomy. -Some medicines. -Standing or walking a lot when the weather is warm. To keep swelling down, your health care provider may recommend keeping your legs raised when sitting, wearing support stockings, limiting how much salt you eat, or taking a medicine called a diuretic - also called a water pill. .  [from MedlinePlus]

MedGen UID:
4451
Concept ID:
C0013604
Finding; Pathologic Function
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.

Pregnancy

So you're going to have a baby! Whether you are pregnant or are planning to get pregnant, you will want to give your baby a healthy start. You need to have regular visits with your healthcare provider. These prenatal care visits are very important for your baby and yourself. Some things you might do when you are pregnant could hurt your baby, such as smoking or drinking. Some medicines can also be a problem, even ones that a doctor prescribed. You will need to drink plenty of fluids and eat a healthy diet. You may also be tired and need more rest. Your body will change as your baby grows during the nine months of your pregnancy. Don't hesitate to call your health care provider if you think you have a problem or something is bothering or worrying you. .  [from MedlinePlus]

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
10.

Congenital hemolytic anemia

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

MedGen UID:
1919
Concept ID:
C0002881
Congenital Abnormality; Disease or Syndrome
11.

Hydrops as a newborn

MedGen UID:
879871
Concept ID:
CN235260
Finding
12.

HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED

Alpha-thalassemia (a-thalassemia) has two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome, caused by deletion of all four a-globin genes; and hemoglobin H (HbH) disease, most frequently caused by deletion of three a-globin genes. Hb Bart syndrome, the more severe form, is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia, in the absence of ABO or Rh blood group incompatibility. Additional clinical features include marked hepatosplenomegaly, extramedullary erythropoiesis, hydrocephalus, and cardiac and urogenital defects. Death usually occurs in the neonatal period. HbH disease is characterized by microcytic hypochromic hemolytic anemia, splenomegaly, mild jaundice, and sometimes thalassemia-like bone changes. Individuals with HbH disease may develop gallstones and experience acute episodes of hemolysis in response to oxidant drugs and infections. [from GeneReviews]

MedGen UID:
479994
Concept ID:
C3278364
Disease or Syndrome
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