Opening the book…
- 9.1: Hereditary Spherocytosis
- This page discusses hereditary spherocytosis, a genetic disorder caused by mutations affecting erythrocyte membrane proteins, resulting in spherocyte formation. It can be inherited either autosomally dominant or recessive. Symptoms include jaundice, fatigue, and splenomegaly, with lab findings such as low hemoglobin and high reticulocyte count. Important diagnostic tests reveal increased osmotic fragility and reduced fluorescence in the Eosin-5'-maleimide binding test.
- 9.2: Hereditary Elliptocytosis and Related Variants
- This page discusses hereditary elliptocytosis, an inherited condition marked by elliptocyte formation and shortened red blood cell lifespan due to cytoskeletal protein mutations. Key variants include Hereditary Pyropoikilocytosis (HPP), which is severe and autosomal recessive, and Southeast Asian Ovalocytosis (SAO), typically asymptomatic and autosomal dominant. Laboratory findings differ, with HPP showing pronounced abnormalities and SAO displaying rigid ovalocytes.
- 9.3: Hereditary Stomatocytosis Syndromes
- This page discusses hereditary stomatocytosis, focusing on two types: Overhydrated and Dehydrated Hereditary Stomatocytosis. Overhydrated stomatocytosis, inherited in an autosomal dominant manner, features increased intracellular Na+ and K+ permeability leading to overhydrated red blood cells. In contrast, Dehydrated stomatocytosis involves increased K+ loss and results in dehydrated cells, also inherited autosomally dominantly. Key laboratory findings for both conditions are outlined.
- 9.4: Hereditary Acanthocytosis (Abetalipoproteinemia)
- This page discusses hereditary acanthocytosis, an autosomal recessive condition marked by acanthocytes in red blood cells due to mutations in the MTP gene, which increase membrane rigidity. Laboratory results typically reveal normal MCV, MCH, and MCHC, alongside normal to increased reticulocyte counts, and acanthocytes present on blood smears.
- 9.5: Paroxysmal Nocturnal Hemoglobinuria (PNH)
- This page discusses Paroxysmal Nocturnal Hemoglobinuria (PNH), an acquired disorder stemming from stem cell level changes that cause increased susceptibility to hemolysis due to a deficiency in glycosylphosphatidylinositol anchor proteins. This leads to the absence of key complement regulators, resulting in various complications such as hemolytic anemia, bone marrow failure, and thrombophilia.
- 9.6: Glucose-6-phosphate Dehydrogenase (G6PD) Deficiency
- This page details the function of Glucose-6-Phosphate Dehydrogenase (G6PD) in safeguarding red blood cells from oxidative stress via the hexose monophosphate shunt, producing NADPH for glutathione maintenance. It highlights that G6PD deficiency, typically X-linked, can cause acute hemolytic anemia due to oxidative triggers and is characterized by increased reticulocytes, Heinz bodies, and hemolysis signs. Additionally, G6PD deficiency may offer protective effects against malaria.
- 9.7: Pyruvate Kinase (PK) Deficiency
- This page covers pyruvate kinase (PK) deficiency, which affects ATP production and leads to chronic hemolytic anemia. The condition is caused by mutations in the PKLR gene and is inherited autosomal recessively. Symptoms include splenomegaly, jaundice, and gallstones. Lab findings show decreased hemoglobin, increased reticulocyte count, and characteristic blood smear changes. Tests reveal normal osmotic fragility, decreased PK levels, and elevated indirect bilirubin and LDH.
This page titled 9: Red Blood Cells- Intrinsic Defects of the RBC Membrane Causing Hemolytic Anemia was last modified on Fri, 11 Sep 2026 16:39:55 GMT and is shared under a CC BY-NC 4.0 license and was authored, remixed, and/or curated by Valentin Villatoro and Michelle To (Open Education Alberta) via source content that was edited to the style and standards of the LibreTexts platform.
The book could not be loaded just now.