Human Immunodeficiency Virus

Infection by the Human Immunodeficiency Virus (HIV) first appears as a transient flu-like illness. There then follows a variable period of good health which may last many years. The HIV virus has tropism for lymphocytes expressing CD4 antigen (T helper cells). HIV is a sexually transmitted infection (STI). It can also be spread by contact with infected blood or from mother […]

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Infectious Mononucleosis

Infectious Mononucleosis (Glandular Fever), also known as mono, is due to infection by the Ebstein-Barr herpes Virus (EBV). Background: The disease was first described in the 1920s. The virus spreads through saliva, which is why it’s sometimes called “kissing disease“. the incubation period for mono is four to eight weeks. Using contaminated items, such as drinking glasses or toothbrushes, can spread the […]

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Miscellaneous Red Cell Abnormalities

Introduction In the chapter of Miscellaneous Red Cell Abnormalities, we will discuss some of the commonly seen red blood cell abnormalities. Adult human bone marrow synthesizes 4 X 1014 molecules of hemoglobin every second. Heme and globin chains (alpha and beta) in adults are manufactured in separate cell compartments—mitochondria and cytoplasm, respectively—and then combined in the cytoplasm in an amazingly accurate manner. Four major […]

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Sickle Cell Disease

Sickle cell disease (HbS) is a severe hereditary form of anemia in which a mutated form of hemoglobin distorts the red blood cells (RBC’s) into a crescent shape at low oxygen levels. Sickle cell disease (HbS) is commonest among those of African descent. In this disease, a single base mutation in the β-globin gene leads to the substitution of valine for […]

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Thalassemia Facies

What is Thalassemia? Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia. In thalassemias, there is an abnormality of one or more of the globin genes leading to […]

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Pyruvate Kinase Deficiency


Pyruvate kinase deficiency (PKD) is one of the most common enzymatic defects of the RBCs, it manifests clinically as hemolytic anemia that can range from mild to severe. There are many different types of enzyme-related defects of the red blood cell that can cause hemolytic anemia. PKD is the second most common cause, after glucose-6-phosphate dehydrogenase (G6PD) deficiency. PKD is inherited […]

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G6PD Deficiency

Introduction: Glucose 6 phosphate dehydrogenase (G6PD) deficiency affects approximately 400 million individuals worldwide. It is the most common human enzyme defect. The global distribution of this disorder is remarkably similar to that of malaria, lending support to the so-called malaria protection hypothesis. It is common in Africa, around the Mediterranean, and in the Orient. G6PD deficiency is an X-linked recessive disorder. The hereditary genetic […]

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Paroxysmal Nocturnal Hemoglobinuria


Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired, life-threatening disease of the blood. The disease is characterized by destruction of red blood cells by the complement system, a part of the body’s innate immune system (hemolytic anemia), blood clots (thrombosis), and impaired bone marrow function (not making enough of the three blood components). PNH is the only hemolytic anemia caused by an acquired (rather than […]

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Acanthocytes (spur cells) are spiculated red cells with a few projections of varying size and surface distribution. The formation of acanthocytes depends on the alteration of the lipid composition and fluidity of the red cell membrane. Acanthocytosis may be inherited (autosomal recessive) in association with retinitis pigmentosa, diffuse neurological deficits, and abetalipoproteinemia. In abetalipoproteinaemia, an autosomal recessive condition, vitamin E […]

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