Notes in 31) Alpha Thalassemia

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Published	06/12/2025	What is alpha thalassemia?
Published	06/12/2025	Composition of adult hemoglobin (HbA)?
Published	06/12/2025	Composition of fetal hemoglobin (HbF)?
Published	06/12/2025	What globin chain is required for all forms of hemoglobin?
Published	06/12/2025	How many alpha-globin genes are normally present?
Published	06/12/2025	Names of the two alpha-globin genes on each chromosome 16?
Published	06/12/2025	What happens when alpha-globin genes are deleted or mutated?
Published	06/12/2025	What determines clinical severity in alpha thalassemia?
Published	06/12/2025	Phenotype of a 1-gene deletion?
Published	06/12/2025	Phenotype of a 2-gene deletion?
Published	06/12/2025	Phenotype of a 3-gene deletion?
Published	06/12/2025	Phenotype of a 4-gene deletion?
Published	06/12/2025	Estimated global number of alpha thalassemia carriers?
Published	06/12/2025	Annual number of infants born severely affected?
Published	06/12/2025	Regions accounting for >95 % of severe births?
Published	06/12/2025	Why is alpha thalassemia prevalent in malarial regions?
Published	06/12/2025	Why must USMLE students master alpha thalassemia?
Published	06/12/2025	What is a common diagnostic pitfall?
Published	06/12/2025	Why is alpha thalassemia important in global health?
Published	06/12/2025	What is the normal genotype for alpha-globin genes?
Published	06/12/2025	Relative contributions of HBA2 vs HBA1?
Published	06/12/2025	What mutation type predominates in alpha thalassemia?
Published	06/12/2025	How many large alpha-globin deletions have been identified?
Published	06/12/2025	Example of a non-deletion alpha mutation?
Published	06/12/2025	Why can non-deletion variants be more severe?
Published	06/12/2025	What occurs when alpha chains are deficient?
Published	06/12/2025	Which tetramers form in fetal life?
Published	06/12/2025	Which tetramers form postnatally?
Published	06/12/2025	Why are Hb Bart’s and HbH ineffective?
Published	06/12/2025	What inclusion bodies result from precipitated chains?
Published	06/12/2025	Mechanism of hemolysis in alpha thalassemia?
Published	06/12/2025	Why can RBC count be elevated?
Published	06/12/2025	Analogy illustrating RBC count paradox?
Published	06/12/2025	Definition of anemia?
Published	06/12/2025	Formula for Mentzer index?
Published	06/12/2025	Mentzer index <13 suggests?
Published	06/12/2025	Mentzer index >13 suggests?
Published	06/12/2025	Inheritance mode of alpha thalassemia?
Published	06/12/2025	What is a trans deletion genotype?
Published	06/12/2025	Population commonly with trans deletions?
Published	06/12/2025	Offspring genotype if two trans carriers mate?
Published	06/12/2025	What is a cis deletion genotype?
Published	06/12/2025	Population commonly with cis deletions?
Published	06/12/2025	Risk if two cis‐carrier parents mate?
Published	06/12/2025	Genotype of alpha thalassemia major?
Published	06/12/2025	Genotype of Hemoglobin H disease?
Published	06/12/2025	Why screen cis carriers?
Published	06/12/2025	Inheritance of Hemoglobin Constant Spring?
Published	06/12/2025	Mnemonic for severity spectrum?
Published	06/12/2025	What is alpha-thalassemia minima?
Published	06/12/2025	What is alpha-thalassemia minor?
Published	06/12/2025	Lab values in alpha thalassemia trait?
Published	06/12/2025	Smear findings in alpha trait?
Published	06/12/2025	Iron studies in alpha trait?
Published	06/12/2025	Electrophoresis in alpha trait?
Published	06/12/2025	Treatment for alpha trait?
Published	06/12/2025	What defines microcytic anemia?
Published	06/12/2025	Phenotype of Hemoglobin H disease?
Published	06/12/2025	Smear findings in HbH disease?
Published	06/12/2025	Stain for HbH inclusions?
Published	06/12/2025	Bone changes in severe thalassemia?
Published	06/12/2025	Electrophoresis pattern in HbH disease?
Published	06/12/2025	Newborn Hb Bart’s in HbH disease?
Published	06/12/2025	Non-deletional HbH severity?
Published	06/12/2025	Hemolysis triggers in HbH disease?
Published	06/12/2025	Management of HbH disease?
Published	06/12/2025	What is hydrops fetalis?
Published	06/12/2025	Cause of hydrops in alpha thalassemia?
Published	06/12/2025	Fetal hemoglobin profile in hydrops?
Published	06/12/2025	Why hydrops is non-immune?
Published	06/12/2025	Maternal complications of fetal hydrops?
Published	06/12/2025	Historical management of hydrops?
Published	06/12/2025	In utero intervention options?
Published	06/12/2025	Postnatal management of survivors?
Published	06/12/2025	Why hydrops is fatal without intervention?
Published	06/12/2025	When does alpha thalassemia major present?
Published	06/12/2025	When does beta thalassemia major present?
Published	06/12/2025	Global distribution of alpha thalassemia?
Published	06/12/2025	Carrier frequency in some malarial regions?
Published	06/12/2025	Why does trait confer malaria protection?
Published	06/12/2025	Impact of migration on alpha thalassemia?
Published	06/12/2025	Examples of national screening programs?
Published	06/12/2025	WHO screening recommendation?
Published	06/12/2025	Effect of screening in Cyprus?
Published	06/12/2025	First step in diagnosing microcytic anemia?
Published	06/12/2025	Key CBC clue for alpha thalassemia?
Published	06/12/2025	RDW in thalassemia trait?
Published	06/12/2025	RDW in iron deficiency?
Published	06/12/2025	What causes target cells?
Published	06/12/2025	Association of target cells mnemonic?
Published	06/12/2025	Smear finding hallmark of lead poisoning?
Published	06/12/2025	Polychromasia indicates?
Published	06/12/2025	Nucleated RBCs indicate?
Published	06/12/2025	Iron studies in alpha thalassemia?
Published	06/12/2025	Iron studies in iron deficiency?
Published	06/12/2025	Iron studies in ACD?
Published	06/12/2025	Electrophoresis in beta thalassemia trait?
Published	06/12/2025	Why normal electrophoresis doesn’t rule out alpha trait?
Published	06/12/2025	Diagnostic test for alpha-globin deletions?
Published	06/12/2025	Common SEA deletion notation?
Published	06/12/2025	Bone marrow findings in thalassemia?
Published	06/12/2025	When suspect alpha thalassemia in neonate?
Published	06/12/2025	Differential acronym for microcytic anemia?
Published	06/12/2025	Clinical context suggestive of ACD?
Published	06/12/2025	Standard treatment for IDA?
Published	06/12/2025	Pitfall of iron therapy in thalassemia?
Published	06/12/2025	What value of Mentzer index suggests thalassemia?
Published	06/12/2025	What value suggests iron deficiency?
Published	06/12/2025	How to distinguish beta major from HbH disease?
Published	06/12/2025	Signs of extramedullary hematopoiesis?
Published	06/12/2025	Lead poisoning non-hematologic signs?
Published	06/12/2025	Diagnostic hallmark of sideroblastic anemia?
Published	06/12/2025	Common acquired sideroblastic causes?
Published	06/12/2025	Transfusion target Hb in dependent thalassemia?
Published	06/12/2025	Reason for iron chelation?
Published	06/12/2025	Common iron chelators?
Published	06/12/2025	Indication for splenectomy in HbH disease?
Published	06/12/2025	Risk after splenectomy?
Published	06/12/2025	Recommended folic acid dose in hemolytic anemia?
Published	06/12/2025	Drugs to avoid in HbH disease?
Published	06/12/2025	General support for all thalassemias?
Published	06/12/2025	Novel erythroid maturation agent?
Published	06/12/2025	Status of gene therapy for alpha thalassemia?
Published	06/12/2025	Outcome of first in utero stem cell transplant trial?
Published	06/12/2025	Which anemia shows normal/high RBC count?
Published	06/12/2025	Which anemia shows low RBC count?
Published	06/12/2025	Trans deletion prevalent in which group?
Published	06/12/2025	Cis deletion prevalent in which group?
Published	06/12/2025	How does alpha thalassemia protect against malaria?
Published	06/12/2025	Distinct iron study in ACD?
Published	06/12/2025	Distinct iron study in IDA?
Published	06/12/2025	Role of EPO in thalassemia?
Published	06/12/2025	Ineffective erythropoiesis leads to?
Published	06/12/2025	Result of marrow expansion on skull X-ray?
Published	06/12/2025	Reason for golf-ball inclusions?
Published	06/12/2025	Why HbH holds O₂ tightly?
Published	06/12/2025	Why hydrops fetalis causes edema?
Published	06/12/2025	Why mothers of hydrops fetalis unaffected?
Published	06/12/2025	Example of non-immune hydrops?
Published	06/12/2025	Example of immune hydrops?
Published	06/12/2025	Key lab difference immune vs non-immune hydrops?
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