Thalassemia - Revision history

ClaireLewis at 18:47, 1 October 2019

2019-10-01T18:47:16Z

← Revisión anterior		Revisión del 18:47 1 oct 2019
Línea 13:		Línea 13:
	===Hemoglobin H Disease (HbH disease)===		===Hemoglobin H Disease (HbH disease)===
	*One ɑ-globin chain gene is still functional		*One ɑ-globin chain gene is still functional
	*Typically presents in neonatal period with severe hypochromic anemia		*Typically presents in neonatal period with severe hypochromic [[anemia]]
	*Hypochromic, microcytic anemia with jaundice and hepatosplenomegaly		*Hypochromic, microcytic anemia with [[jaundice]] and [[hepatomegaly\|hepatosplenomegaly]]
	*May not require regular transfusions		*May not require regular [[pRBCs\|transfusions]]
	*~~Tranfusions~~ may be necessary in setting of increased oxidative stress or infection which may precipitate hemolysis		*[[pRBCs\|Transfusions]] may be necessary in setting of increased oxidative stress or infection which may precipitate [[hemolytic anemia\|hemolysis]]
	*Note that alpha thalassemia major (Hb Bart) results in hydrops fetalis, and thus is not an adult disease process		*Note that alpha thalassemia major (Hb Bart) results in [[hydrops fetalis]], and thus is not an adult disease process

	===β-Thalassemia Minor (β-Thalassemia Trait)===		===β-Thalassemia Minor (β-Thalassemia Trait)===
	*Heterozygous for β-globin mutation		*Heterozygous for β-globin mutation
	*Mild microcytic anemia		*Mild microcytic [[anemia]]
	*Splenomegaly uncommon		*Splenomegaly uncommon
	*Microcytosis, hypochromia, basophilic stippling on blood smear		*Microcytosis, hypochromia, basophilic stippling on blood smear
Línea 29:		Línea 29:
	*Both β-globin genes defective; β-globin chain production severely impaired		*Both β-globin genes defective; β-globin chain production severely impaired
	*Typically presents >6mos of life (HbF production replaced with β-globin to form HbA)		*Typically presents >6mos of life (HbF production replaced with β-globin to form HbA)
	*Hepatosplenomegaly, jaundice, expansion of erythroid marrow causing bone changes and osteoporosis, susceptible to infection		*[[hepatomegaly\|Hepatosplenomegaly]], [[jaundice]], expansion of erythroid marrow causing bone changes and osteoporosis, susceptible to [[osteomyelitis\|infection]]
	*Severe anemia requiring regular and lifelong blood transfusions		*Severe [[anemia]] requiring regular and lifelong blood [[pRBCs\|transfusions]]
	**Iron overload secondary to frequent transfusions is etiology of most of morbidity and mortality		**[[hemochromatosis\|Iron overload]] secondary to frequent transfusions is etiology of most of morbidity and mortality
	*Low MCV with microcytic and hypochromic RBC		*Low MCV with microcytic and hypochromic RBC

Línea 39:		Línea 39:
	*Severity depends on type of β-thalassemia gene inherited		*Severity depends on type of β-thalassemia gene inherited
	**80-90% inherit β-thalassemia gene that has some normal β-chain production; these patients have mild hemolytic anemia with near-normal Hb levels, few crises		**80-90% inherit β-thalassemia gene that has some normal β-chain production; these patients have mild hemolytic anemia with near-normal Hb levels, few crises
	**10-20% inherit β-thalassemia gene that produces no-chains; these patients have severe hemolytic anemia and vaso-occlusive symptoms		**10-20% inherit β-thalassemia gene that produces no-chains; these patients have severe [[hemolytic anemia]] and [[vaso-occlusive crisis\|vaso-occlusive symptoms]]

	==Differential Diagnosis==		==Differential Diagnosis==
	===[[Anemia]]===		===[[Anemia]]===
	====RBC Loss====		====RBC Loss====
	*Hemorrhage		*[[Hemorrhage]]
	====RBC consumption (Destruction/hemolytic)====		====RBC consumption (Destruction/hemolytic)====
	*Hereditary		*Hereditary
Línea 61:		Línea 61:
	*Chemicals (e.g. [[ETOH]])		*Chemicals (e.g. [[ETOH]])
	*Radiation		*Radiation
	*Infection ([[HIV]], parvo)		*Infection ([[HIV]], [[parvovirus B19\|parvo]])
	====Megaloblastic (macrocytic)====		====Megaloblastic (macrocytic)====
	*Vitamin B12/folate deficiency		*Vitamin B12/folate deficiency
Línea 78:		Línea 78:
	*Identify and discontinue precipitating agent		*Identify and discontinue precipitating agent
	*Supportive care		*Supportive care
	*Blood transfusions for severe anemia		*[[pRBCs\|Blood transfusions]] for severe anemia

	==Disposition==		==Disposition==

Kxl328: /* Clinical Features */

2018-09-22T23:11:22Z

Clinical Features

Kxl328: /* Hemoglobin H Disease (HbH disease) */

2018-09-22T23:10:25Z

Hemoglobin H Disease (HbH disease)

← Revisión anterior		Revisión del 23:10 22 sep 2018
Línea 17:		Línea 17:
	*may not require regular transfusions		*may not require regular transfusions
	*tranfusions may be necessary in setting of increased oxidative stress or infection which may precipitate hemolysis		*tranfusions may be necessary in setting of increased oxidative stress or infection which may precipitate hemolysis
			*note that alpha thalassemia major (Hb Bart) results in hydrops fetalis, and thus is not an adult disease process

	===β-Thalassemia Minor (β-Thalassemia Trait)===		===β-Thalassemia Minor (β-Thalassemia Trait)===

Rossdonaldson1: /* Clinical Features */

2016-09-27T17:28:50Z

Clinical Features

← Revisión anterior		Revisión del 17:28 27 sep 2016
Línea 7:		Línea 7:
	**β-globin gene mutations cause β-thalassemia; ɑ-globin mutations cause ɑ-thalassema		**β-globin gene mutations cause β-thalassemia; ɑ-globin mutations cause ɑ-thalassema

	~~'''~~ɑ-Thalassemia Carrier and Trait~~'''~~		===ɑ-Thalassemia Carrier and Trait===
	*no clinical symptoms or physical findings		*no clinical symptoms or physical findings
	*microcytic RBCs and normal Hb level		*microcytic RBCs and normal Hb level

	~~'''~~Hemoglobin H Disease (HbH disease)~~'''~~		===Hemoglobin H Disease (HbH disease)===
	*one ɑ-globin chain gene is still functional		*one ɑ-globin chain gene is still functional
	*typically presents in neonatal period with severe hypochromic anemia		*typically presents in neonatal period with severe hypochromic anemia
Línea 18:		Línea 18:
	*tranfusions may be necessary in setting of increased oxidative stress or infection which may precipitate hemolysis		*tranfusions may be necessary in setting of increased oxidative stress or infection which may precipitate hemolysis

	~~'''~~β-Thalassemia Minor (β-Thalassemia Trait)~~'''~~		===β-Thalassemia Minor (β-Thalassemia Trait)===
	*heterozygous for β-globin mutation		*heterozygous for β-globin mutation
	*mild microcytic anemia		*mild microcytic anemia
Línea 25:		Línea 25:
	*no clinical symptoms		*no clinical symptoms

	~~'''~~β-Thalassemia Major (Cooley Anemia)~~'''~~		===β-Thalassemia Major (Cooley Anemia)===
	*both β-globin genes defective; β-globin chain production severely impaired		*both β-globin genes defective; β-globin chain production severely impaired
	*typically presents >6mos of life (HbF production replaced with β-globin to form HbA)		*typically presents >6mos of life (HbF production replaced with β-globin to form HbA)
Línea 33:		Línea 33:
	*low MCV with microcytic and hypochromic RBC		*low MCV with microcytic and hypochromic RBC

	~~'''~~Sickle Cell-β-Thalassemia Disease~~'''~~		===Sickle Cell-β-Thalassemia Disease===
	*gene for sickle Hb is inherited from one parent and gene for β-thalassemia is inherited from the other parent		*gene for sickle Hb is inherited from one parent and gene for β-thalassemia is inherited from the other parent
	*1 per 1600 African American births		*1 per 1600 African American births

ClaireLewis: /* Background */

2016-09-27T00:18:11Z

Background

← Revisión anterior		Revisión del 00:18 27 sep 2016
Línea 1:		Línea 1:
	==Background==		==Background==
	*A group of hereditary disorders resulting in microcytic, hypochromic, hemolytic anemia		*A group of hereditary disorders resulting in microcytic, hypochromic, hemolytic [[anemia]]
	*Most common in Mediterranean, Middle Eastern, African and Southeast Asian population		*Most common in Mediterranean, Middle Eastern, African and Southeast Asian population

Kaoru at 22:39, 26 September 2016

2016-09-26T22:39:06Z

← Revisión anterior		Revisión del 22:39 26 sep 2016
Línea 7:		Línea 7:
	**β-globin gene mutations cause β-thalassemia; ɑ-globin mutations cause ɑ-thalassema		**β-globin gene mutations cause β-thalassemia; ɑ-globin mutations cause ɑ-thalassema

	ɑ-Thalassemia Carrier and Trait		'''ɑ-Thalassemia Carrier and Trait'''
	*no clinical symptoms or physical findings		*no clinical symptoms or physical findings
	*microcytic RBCs and normal Hb level		*microcytic RBCs and normal Hb level

	Hemoglobin H Disease (HbH disease)		'''Hemoglobin H Disease (HbH disease)'''
	*one ɑ-globin chain gene is still functional		*one ɑ-globin chain gene is still functional
	*typically presents in neonatal period with severe hypochromic anemia		*typically presents in neonatal period with severe hypochromic anemia
Línea 18:		Línea 18:
	*tranfusions may be necessary in setting of increased oxidative stress or infection which may precipitate hemolysis		*tranfusions may be necessary in setting of increased oxidative stress or infection which may precipitate hemolysis

	β-Thalassemia Minor (β-Thalassemia Trait)		'''β-Thalassemia Minor (β-Thalassemia Trait)'''
	*heterozygous for β-globin mutation		*heterozygous for β-globin mutation
	*mild microcytic anemia		*mild microcytic anemia
Línea 25:		Línea 25:
	*no clinical symptoms		*no clinical symptoms

	β-Thalassemia Major (Cooley Anemia)		'''β-Thalassemia Major (Cooley Anemia)'''
	*both β-globin genes defective; β-globin chain production severely impaired		*both β-globin genes defective; β-globin chain production severely impaired
	*typically presents >6mos of life (HbF production replaced with β-globin to form HbA)		*typically presents >6mos of life (HbF production replaced with β-globin to form HbA)
Línea 33:		Línea 33:
	*low MCV with microcytic and hypochromic RBC		*low MCV with microcytic and hypochromic RBC

	Sickle Cell-β-Thalassemia Disease		'''Sickle Cell-β-Thalassemia Disease'''
			*gene for sickle Hb is inherited from one parent and gene for β-thalassemia is inherited from the other parent
	ɑ		*1 per 1600 African American births
	β		*severity depends on type of β-thalassemia gene inherited
			**80-90% inherit β-thalassemia gene that has some normal β-chain production; these patients have mild hemolytic anemia with near-normal Hb levels, few crises
			**10-20% inherit β-thalassemia gene that produces no-chains; these patients have severe hemolytic anemia and vaso-occlusive symptoms

	==Differential Diagnosis==		==Differential Diagnosis==
			===[[Anemia]]===
			====RBC Loss====
			*Hemorrhage
			====RBC consumption (Destruction/hemolytic)====
			*Hereditary
			**[[Sickle cell disease]]
			**[[Glucose-6-phosphate deficiency]]
			*Acquired
			*[[Microangiopathic Hemolytic Anemia (MAHA)]]
			*[[Autoimmune hemolytic anemia]]
			====Impaired Production (Hypochromic/microcytic)====
			*Iron deficiency
			*Anemia of chronic disease
			*[[Thalassemia]]
			*Sideroblastic anemia
			====Aplastic/myelodysplastic (normocytic)====
			*Marrow failure
			*Chemicals (e.g. [[ETOH]])
			*Radiation
			*Infection ([[HIV]], parvo)
			====Megaloblastic (macrocytic)====
			*Vitamin B12/folate deficiency
			*Drugs (chemo)
			*[[HIV]]

	==Evaluation==		==Evaluation==
			*CBC
			*CMP
			*Blood smear
			*Reticulocyte count
			*LDH
			*Haptoglobin

	==Management==		==Management==
			*Identify and discontinue precipitating agent
			*Supportive care
			*Blood transfusions for severe anemia

	==Disposition==		==Disposition==

	==See Also==		==See Also==
			*[[Anemia]]

	==External Links==		==External Links==
Línea 52:		Línea 88:
	==References==		==References==
	<references/>		<references/>
			*Tintinalli's Emergency Medicine 7th Edition, pg1486-7

			[[Category: Heme/Onc]]

Kaoru: Created page with "==Background== A group of hereditary disorders resulting in microcytic, hypochromic, hemolytic anemia Most common in Mediterranean, Middle Eastern, African and Southeast Asi..."

2016-09-26T22:22:49Z

Created page with "==Background== *A group of hereditary disorders resulting in microcytic, hypochromic, hemolytic anemia *Most common in Mediterranean, Middle Eastern, African and Southeast Asi..."

Página nueva

==Background==
*A group of hereditary disorders resulting in microcytic, hypochromic, hemolytic anemia
*Most common in Mediterranean, Middle Eastern, African and Southeast Asian population

==Clinical Features==
*Categorized depending on globin chain affected or the abnormal Hb produced
**β-globin gene mutations cause β-thalassemia; ɑ-globin mutations cause ɑ-thalassema

ɑ-Thalassemia Carrier and Trait
*no clinical symptoms or physical findings
*microcytic RBCs and normal Hb level

Hemoglobin H Disease (HbH disease)
*one ɑ-globin chain gene is still functional
*typically presents in neonatal period with severe hypochromic anemia
*hypochromic, microcytic anemia with jaundice and hepatosplenomegaly
*may not require regular transfusions
*tranfusions may be necessary in setting of increased oxidative stress or infection which may precipitate hemolysis

β-Thalassemia Minor (β-Thalassemia Trait)
*heterozygous for β-globin mutation
*mild microcytic anemia
*splenomegaly uncommon
*microcytosis, hypochromia, basophilic stippling on blood smear
*no clinical symptoms

β-Thalassemia Major (Cooley Anemia)
*both β-globin genes defective; β-globin chain production severely impaired
*typically presents >6mos of life (HbF production replaced with β-globin to form HbA)
*hepatosplenomegaly, jaundice, expansion of erythroid marrow causing bone changes and osteoporosis, susceptible to infection
*severe anemia requiring regular and lifelong blood transfusions
**iron overload secondary to frequent transfusions is etiology of most of morbidity and mortality
*low MCV with microcytic and hypochromic RBC

Sickle Cell-β-Thalassemia Disease

ɑ
β

==Differential Diagnosis==

==Evaluation==

==Management==

==Disposition==

==See Also==

==External Links==

==References==
<references/>

← Revisión anterior		Revisión del 23:11 22 sep 2018
Línea 8:		Línea 8:

	===ɑ-Thalassemia Carrier and Trait===		===ɑ-Thalassemia Carrier and Trait===
	*no clinical symptoms or physical findings		*No clinical symptoms or physical findings
	*~~microcytic~~ RBCs and normal Hb level		*Microcytic RBCs and normal Hb level

	===Hemoglobin H Disease (HbH disease)===		===Hemoglobin H Disease (HbH disease)===
	*~~one~~ ɑ-globin chain gene is still functional		*One ɑ-globin chain gene is still functional
	*~~typically~~ presents in neonatal period with severe hypochromic anemia		*Typically presents in neonatal period with severe hypochromic anemia
	*~~hypochromic~~, microcytic anemia with jaundice and hepatosplenomegaly		*Hypochromic, microcytic anemia with jaundice and hepatosplenomegaly
	*~~may~~ not require regular transfusions		*May not require regular transfusions
	*~~tranfusions~~ may be necessary in setting of increased oxidative stress or infection which may precipitate hemolysis		*Tranfusions may be necessary in setting of increased oxidative stress or infection which may precipitate hemolysis
	*~~note~~ that alpha thalassemia major (Hb Bart) results in hydrops fetalis, and thus is not an adult disease process		*Note that alpha thalassemia major (Hb Bart) results in hydrops fetalis, and thus is not an adult disease process

	===β-Thalassemia Minor (β-Thalassemia Trait)===		===β-Thalassemia Minor (β-Thalassemia Trait)===
	*~~heterozygous~~ for β-globin mutation		*Heterozygous for β-globin mutation
	*~~mild~~ microcytic anemia		*Mild microcytic anemia
	*~~splenomegaly~~ uncommon		*Splenomegaly uncommon
	*~~microcytosis~~, hypochromia, basophilic stippling on blood smear		*Microcytosis, hypochromia, basophilic stippling on blood smear
	*no clinical symptoms		*Co clinical symptoms

	===β-Thalassemia Major (Cooley Anemia)===		===β-Thalassemia Major (Cooley Anemia)===
	*~~both~~ β-globin genes defective; β-globin chain production severely impaired		*Both β-globin genes defective; β-globin chain production severely impaired
	*~~typically~~ presents >6mos of life (HbF production replaced with β-globin to form HbA)		*Typically presents >6mos of life (HbF production replaced with β-globin to form HbA)
	*~~hepatosplenomegaly~~, jaundice, expansion of erythroid marrow causing bone changes and osteoporosis, susceptible to infection		*Hepatosplenomegaly, jaundice, expansion of erythroid marrow causing bone changes and osteoporosis, susceptible to infection
	*~~severe~~ anemia requiring regular and lifelong blood transfusions		*Severe anemia requiring regular and lifelong blood transfusions
	**~~iron~~ overload secondary to frequent transfusions is etiology of most of morbidity and mortality		**Iron overload secondary to frequent transfusions is etiology of most of morbidity and mortality
	*~~low~~ MCV with microcytic and hypochromic RBC		*Low MCV with microcytic and hypochromic RBC

	===Sickle Cell-β-Thalassemia Disease===		===Sickle Cell-β-Thalassemia Disease===
	*~~gene~~ for sickle Hb is inherited from one parent and gene for β-thalassemia is inherited from the other parent		*Gene for sickle Hb is inherited from one parent and gene for β-thalassemia is inherited from the other parent
	*1 per 1600 African American births		*1 per 1600 African American births
	*~~severity~~ depends on type of β-thalassemia gene inherited		*Severity depends on type of β-thalassemia gene inherited
	**80-90% inherit β-thalassemia gene that has some normal β-chain production; these patients have mild hemolytic anemia with near-normal Hb levels, few crises		**80-90% inherit β-thalassemia gene that has some normal β-chain production; these patients have mild hemolytic anemia with near-normal Hb levels, few crises
	**10-20% inherit β-thalassemia gene that produces no-chains; these patients have severe hemolytic anemia and vaso-occlusive symptoms		**10-20% inherit β-thalassemia gene that produces no-chains; these patients have severe hemolytic anemia and vaso-occlusive symptoms