Causes of Hemoglobinopathies Blood

• disorders Syndromes DiagnosisBiochemical analysis of Dosha Dhatu Mala In Ayurveda. Read more ... » TreatmentBiochemical analysis of Dosha Dhatu Mala In Ayurveda. Read more ... » –

 

Hemoglobinopathies

• Oxygen is delivered to tissues by hemoglobin. Hemoglobin is present in erythrocytes in high con­centration and is responsible for the shape of the cell, viscosity of blood and cell deformability.
• Hemoglobinopathies are disorders of structure, func­tion or production of hemoglobin.
• Different hemoglobins are produced during embry­onic, fetal and adult life.
• The major adult hemoglobin HbA has the structure  a2b2
• Minor adult hemoglobin is HbA₂,a2d2
• HBF or fetal hemoglobin is –a2g2
• HbF predominates during gestation.
• During post natal life, only small amounts of HBF is present.
• At about 6 wks of gestation, the Hb is mainly embry­onic Hb.
• At 10 – 11 weeks, HbF becomes predominant. At 38 wks most of the Hb is HbA.
• During stress, as in hemolytic anaemias, bone mar­row transplant, chemotherapy, HbF increases.
• Hydroxyurea also increases HbF.

Classification of Hemoglobmopathies –

I. Structural hemoglobinopathies–

• 1. Sickle cell anaemia – HbS
• 2. Polycythemia, cyanosis
• 3. Hemolytic anaemiaHemolytic Anaemia Classification Diagnosis And Treatment. Read more ... »
• 4. JaundiceCauses of jaundice with diagnosis and bio markers. Read more ... »
• 5. Methemoglobinemia.

II. Thalassemia -

• Alpha thalassemia,
• Beta thalas­semia,
• Alpha-beta thalassaemia.

III. Thalassemic variants -

• HbE thalassemia
• - Hb Lepore

IV. HPFH -

• Hereditary persistence of fetal hemo­globin in adult life.

V. Acquired hemoglobinopathies

• 1. Methemoglobinemia
• 2. Sulfhemoglobinemia
• 3. Carboxyhemoglobinemia.

Diagnosis of Hemoglobmopathies – 

• is by haemoglobin electrophoresis and sickling tests.

The SICkLE CELL SYNDROMES –

SICkLE CELL

• These are hemoglobinopathies with abnormal hemo­globin HbS.
• The cells are sickle-shaped, non-pliable and there­fore cause vascular occlusion. The cells are easily destroyed leading to hemolytic anaemia. The cells are rigid and cause occlusion of capillaries and veins caus­ing tissue ischemia, pain, damage and infarction of organs.
• Sickle-cell anaemia is the homozygous state for HbS.

ClinicalBiochemical analysis of Dosha Dhatu Mala In Ayurveda. Read more ... » manifestations of Hemoglobmopathies –

• are anaemia, hemolysis, vascular occlusions, pain in limbs, renalDiabetic Nephropathy and Renal complications of DM (Diabetes Mellitus). Read more ... » failure, acuteBiochemical analysis of Dosha Dhatu Mala In Ayurveda. Read more ... » chest syndromeMetabolic,Insulin Resistance Syndrome X Causes Symptoms. Read more ... », chest painApproach to Chest Pain Differential diagnosis of chest pain. Read more ... », tachypnea, feverThyrotoxic crisis or Thyroid storm. Read more ... », cough, pulmonary embolization, cor-pulmonale.
• The most common clinical manifestation is recurrent acute pain, fever, and tachycardia called painful cri­ses. Repeated crises more than 3 per year require hospitalisation and have bad prognosis.

• The spleen may disappear within 3 years of life due to repeated microinfarction.
• The hand-foot syndrome is due to painful infarct in the digits.
• Sickle cell trait is asymptomatic, because HbS/A is 60/40.

THALASSEMIA SYNDROMES –

 

THALASSEMIA

• These are inherited disorders of alpha or beta globin synthesis. There is hypochromia and microcytosis.

Clinical manifestations of thalssemia syndromes –

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Clinical manifestations of thalssemia

• are deranged growth and development, anaemia, chipmunk facies with maxil­lary marrow hyperplasia, frontal bossing, thin long bones, growth retardation, hemolytic anaemia, hepatosplenomegaly, and congestive heartSupraventricular tachycardia and Ventricular fibrillation Causes Diagnosis with Treatment. Read more ... » failure.
• ChronicChronic Hepatitis Classification viral hepatitis Clinical features and Treatment. Read more ... » transfusions with RBCs prolong life but iron overload occurs and death can occur in 3^rd decade.
• Alpha thalassemia syndromes may be asymptomatic or have hemolytic anaemia.
• Patients of beta thalassemia minor and beta thalas­semia trait are asymptomatic.
• Treatment consists of chronic blood and RBC transfu­sion, and splenectomy.
• Splenectomy is recommended if several transfusions are required in a year.
• Folic acid supplements and vaccination with pneumovax is done before splenectomy.
• Antenatal diagnosis is now widely available. PCR am­plification of fetal DNA is used for specific diagnosis.

Treatment of Hemoglobmopathies –

• of sickle cell syndrome is analgesics, antibiotics, morphine, oxygen therapy, blood trans­fusion.
• Hydroxyure a 10 mg/kg/day increases fetal hemoglo­bin and is helpful.
• Other drugs are azacytidine and decitabine.
• Bone marrow transplantation is curative in children. Gene therapy may provide the best treatment.

This is short description about Hemoglobinopathies.