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Intrahepatic cholestasis of pregnancy (ICP), also known as obstetric cholestasis, cholestasis of pregnancy, jaundice of pregnancy, and prurigo gravidarum, [1] is a medical condition in which cholestasis occurs during pregnancy. [2] It typically presents with itching and can lead to complications for both mother and fetus. [2]
Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
Pyruvate kinase deficiency is the second most common cause of enzyme-deficient hemolytic anemia, following G6PD deficiency. [13] The symptoms of pyruvate kinase deficiency are mild to severe hemolytic Anemia, cholecystolithiasis, tachycardia, hemochromatosis, icteric sclera, splenomegaly, leg ulcers, jaundice, fatigue, and shortness of breath. [14]
The gene involved with patients diagnosed with type 3 hemochromatosis is TFR2 ( or HFE3). HFE (not the same as HFE3) is most often the cause of hereditary hemochromatosis. [14] The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells.
Diagnosis of hemolytic jaundice is based mainly on visual assessment of the yellowing of the patient's skin and sclera, while the cause of hemolysis must be determined using laboratory tests. [10] Treatment of the condition is specific to the cause of hemolysis , but intense phototherapy and exchange transfusion can be used to help the patient ...
Type 4 hemochromatosis is caused by mutations of the SLC40A1 gene, located on the long arm of chromosome 2, specifically at 2q32.2. The SLC40A1 gene encodes ferroportin, a protein responsible for exporting iron from cells in the intestine, liver, spleen, and kidney, as well as from reticuloendothelial macrophages and the placenta.
Newborn Screening Tests - Transfusion with donor blood during pregnancy or shortly after birth can affect the results of the Newborn Screening Tests. It is recommended to wait and retest 10–12 months after the last transfusion. In some cases, DNA testing from saliva can be used to rule out certain conditions. [citation needed]
This is a major cause of HDN, because 75% of pregnancies result in some contact between fetal and maternal blood, and 15–50% of pregnancies have hemorrhages with the potential for immune sensitization. The amount of fetal blood needed to cause maternal sensitization depends on the individual's immune system and ranges from 0.1 mL to 30 mL. [5]