An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

The presence of inflammatory changes in the gallbladder.

Hard, pebble-like deposits that form within the gallbladder.

Abnormally increased size of the liver.

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.

Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.

An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.

An chronic form of hemolytic anemia.

An abnormal reduction below normal hemoglobin concentration in the circulation.

Abnormal increased size of the spleen.

An increased amount of unconjugated (indirect) bilurubin in the blood.

Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction

An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.

Abnormally pale skin.

Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).