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    Alpha Thalassemia (Alpha-Thalassemia)

    Thalassemia alpha[1]

    Alpha-thalassemia (α-thalassemia) is a comprehensive group of hereditary anemias, which features two clinical types, the hemoglobin Bart's hydrops fetalis syndrome, abbreviated as Hb Bart, and the hemoglobin H (HbH) disease.

    Alpha Thalassemia is induced by the following process: hereditary.


    The two types of alpha thalassemia, hydrops fetalis and Hemoglobin H disease, are the ones that lead to observable symptomatology amongst the various types of alpha thalassemia; this is due to the extremely diminished concentration of functional hemoglobin [6].

    Embryos with hydrops fetalis experience death in utero or shortly after birth, if their condition is not diagnosed in advance. Typical findings include hepatomegaly, splenomegaly, profound anemia, edema and an extremely decreased cardiac output. Expectant mothers also experience pregnancy complications, when carrying an embryo with hydrops fetalis. Preeclampsia, premature labor, oligo- or polyhydramnios are common issues accompanying such a pregnancy.   

    With regard to Hemoglobin H disease, symptomatology is individualized. Patients may be diagnosed at any point between childhood and adulthood and some may even be asymptomatic at the time of diagnosis. Hemolytic anemia is the primary finding (hypochromic microcytic), accompanied by splenomegaly and occasional hepatomegaly, jaundice and some facial skeletal defects, such as hypertrophic maxilla. The administration of drugs that cause oxidative stress exacerbates the hemolytic phenomena in patients with HbH disease, who may also display hypersplenism as a reaction. 

    Hydrops Fetalis
    • fetalis called Hb Bart's hydrops fetalis .[]
    • fetalis due to isoimmunization ( ICD-10-CM Diagnosis Code P56.0 Hydrops fetalis due to isoimmunization 2016 2017 2018 Billable/Specific Code Code on Newborn Record P56.0 ) hydrops fetalis not due to immune hemolysis ( ICD-10-CM Diagnosis Code P83.2 Hydrops[]
    • […] the Hb Bart's hydrops fetalis syndrome. 25 26 Deletions Causing Hydrops Fetalis in the Mediterranean Region Hb Bart's hydrops fetalis has been reported in Cyprus, 28 29 Greece, 30-33 Sardinia, 34 and Turkey. 35 It is caused by either of two deletional[]
    • Hb Bart’s Hydrops Fetalis.[]
    • . * Missing four genes (Hydrops fetalis): (--/--), this is a life threatening disease.[]
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  • Entire body system
    • Note : Thalassemia is a microcytic, hypochromic anemia.[]
    • You may have moderate or severe anemia.[]
    • ; hepatosplenomegaly; skeletal deformation; mongoloid facies; and cardiac enlargement. thalassemia mi nor the heterozygous form of β-thalassemia ; it is usually asymptomatic, but there may be mild anemia. sickle cell–thalassemia a hereditary anemia involving[]
    • Thalassemia Major or Cooley's Anemia .[]
    • That leads to anemia.[]
    • Severe anemia can also occur if the patient gets a high fever.[]
    • Fevers can cause a drop in hemoglobin.[]
    • During a hemolytic crisis and transfusion, hydration and fever control is very important.[]
    • Asians; the most severe form of alpha thalassemia causes stillbirth due to hydrops fetalis Heredity Parents are carriers–heterozygotes; one in 4 children is homozygous for the mutation and thus has full-blown disease Clinical Pallor, fatiguability, FTT, fever[]
    • Gallstones Bilirubin stones Lifelong hemolytic state causes increased bilirubin deposition in the gallbladder Malnutrition Rapidly growing erythrocyte precursors compete for nutrients and can cause malnutrition Bronze skin Cutaneous iron deposition damages[]
    • If splenectomy is anticipated, the complication of severe post-splenectomy thrombocytosis with hypercoagulability can occur, leading to thrombosis of the splenic vein or hepatic veins.[]
    • Surgical intervention Splenectomy may be a measure taken to address cases of patients with HbH, complicated with hypersplenism .[]
    • Treatment for severe forms may include transfusion, splenectomy, chelation, and stem cell transplantation.[]
    • Development and life expectancy are usually normal, but some affected individuals may require splenectomy and transfusion therapy.[]
    • They can develop large spleens that often require splenectomy.[]
    Surgical Procedure
    • However, this surgical procedure carries risks such as blood clot formation within a vein (venous thrombosis), which are weighed against the benefits in each individual case.[]
    • The data indicate that 15% of the Greek and Turkish Cypriots are carriers of beta-thalassaemia genes, while 10% of the population carry alpha-thalassaemia genes.[]
    • Further example of hemoglobin D in a Turkish family.[]
    • PubMed Google Scholar Yuregir GT, Aksoy K, Curuk MA, Dikmen N, Fei YJ, Baysal E, Huisman TH: Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation.[]
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  • gastrointestinal
    • […] severe complications like: Gallstones Leg ulcers Heart disorders including heart failure Liver problems Increased risk of various infection Deferoxamine administration can cause hearing and vision loss in some individuals while Deferasirox often leads to nausea[]
    • Other side effects include nausea, vomiting, abdominal pain, increased liver enzymes, arthralgia, and rarely, zinc deficiency in diabetic patients.[]
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  • psychiatrical
    • The elevated Hgb A2 and Hgb F suggest beta-thalassemia trait.[]
    • In terms of epidemiology, worldwide distribution of inherited alpha-thalassemia corresponds to areas of malaria exposure, suggesting a protective role.[]
    • Identification of HbPS suggests that this mutation might be common and underestimated among South-east Asian populations.[]
    • Suggest laboratory tests to confirm this presumptive diagnosis; and suggest explanations for discrepancies among laboratory tests.[]
    • This suggests that the abnormal genetic and epigenetic programs in hematopoietic progenitors in MDS do not directly influence α-globin expression.[]
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  • Workup

    Thalassemia is diagnosed via laboratory tests and specifically a complete blood count, serum ferritin, hemoglobin electrophoresis and a peripheral smear. Hypochromic microcytic anemia is the primary finding in tests of individuals with thalassemia; the severity depends on the type of thalassemia. 

    Differential diagnosis is extensive when hypochromic microcytic anemia is discovered. Possible causes include alpha thalassemia, iron deficiency, sideroblastic anemia, anemia of chronic disease and lead poisoning. The following observations are useful tools in order to distinguish thalassemia from the other possible causes:

    •  Mean corpuscular volume (MCV): Patients with thalassemia usually exhibit an MCV< 75 fl. Anemia that is a result of iron deficiency usually leads to an MCV> 80 fl.
    • Red cell distribution width (RDW): Over 90% of the cases of iron deficiency anemia exhibit an increased RDW. Contrary to that, only half of the patients with thalassemia have an augmented RDW.
    • Mentzer index: The Mentzer index is the ratio of MCV/red blood cell count. It is >13 in patients affected by iron deficiency anemia and <13 in patients that have inherited thalassemia [4] [5].


    Hemoglobin Decreased
    • Introduction Thalassemia is a general term for a group of congenital, genetic disorders characterized by low levels of hemoglobin, decreased red blood cell production, and anemia.[]
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  • Treatment

    Treatment of alpha thalassemia is individualized and depends on the type of the condition an individual suffers from. Mild cases of thalassemia that cause no clinical disturbance or profound laboratory findings may be simply monitored, without any treatment. On the other hand, markedly low levels of hemoglobin may be an indicator of treatment initiation: extremely low hemoglobin levels usually require transfusions for the whole of the patient's life, whereas surgical intervention is reserved for some patients [7] [8] [9]. Individuals with low levels of iron and/or folic acid may also require the administration of supplements.

    General supportive care

    Hemoglobin abnormalities usually need supportive care in patients with HbB disease. Blood transfusions are not conducted in fixed intervals, but rather when the patient displays markedly low levels of hemoglobin caused by acute HbH episodes, infections, etc [10] [11]. Transfusions can be initiated as soon as the first days of a neonate's life.

    Patients generally need a few transfusion sessions throughout their lives, as hemoglobin levels fluctuate between the values of 7 to 10 g/dL. However, severer cases with hemoglobin levels constantly below 7 g/dL may need lifelong transfusions, which renders the patient susceptible to the complication of iron overload. To prevent this, chelation therapy is implemented. Iron chelation therapy may be necessary even for patients who do not receive a great number of transfusions. In patients affected by HbH, hemolysis is caused by various infections or the use of drugs.

    Iron and folic acid

    Patients with alpha thalassemia must be closely monitored to detect a possible iron deficiency, for which they may be treated with iron supplements if necessary, although this treatment does not lead to improved blood test results. Special attention should also be drawn to the fact that, many individuals who display low levels of iron, actually suffer from hemochromatosis, which implies that excessive amounts of iron have accumulated within organs and tissue. If a patient is found to have raised levels of ferritin, its consumption should be restricted in the diet. Lastly, a patient may also receive folic acid supplements, particularly if they display increased levels of reticulocytes.

    Surgical intervention

    Splenectomy may be a measure taken to address cases of patients with HbH, complicated with hypersplenism. Erythroid hyperplasia, when present, can also induce skeletal irregularities, which can be corrected with surgery, dental or orthopedic. 

    Additional treatment options

    After a splenectomy has been performed, patients are susceptible to various infections and should therefore be cautious and vaccinate themselves against pathogens , such as pneumococcus. As a last resort, allogeneic hematopoietic stem cell transplantation can be an option, but is reserved for extremely severe cases with no response to other treatment plans, due to the increased mortality and morbidity accompanying the procedure.


    The prognosis depends on the type of thalassemia a patient suffers from. Individuals with the alpha thalassemia trait and silent carriers are clinically unaffected by the condition and require no treatment. Patients with HbH disease face a comprehensively good prognosis too, although each case is individualized, with complications varying. 

    Embryos that are diagnosed with hydrops fetalis, which implies the complete absence of functional alpha genes, are in need of transfusions in utero, so that they can survive past birth. Blood transfusions have to be continued for the whole of the individual's life, as they are unable to produce functional hemoglobin of any type. This type of treatment renders it possible for patients with hydrops fetalis to live longer than before, but complications pose a significant danger: frequent transfusions lead to the accumulation of excessive iron in the organs of the body and heart dysfunction. Diabetes mellitus and various abnormalities of the endocrine glands are also observed in patients with alpha thalassemia major [4] [5].


    • Asian (–allele) and African (-α allele) descent. α-Globin chain gene deletions 2 deletions (trait) 3 deletions (HbH; 4 β chains) 4 deletions (Hb Bart s; 4 γ chains) HbH disease Signs and symptoms of anemia; Chronic hemolysis with variable jaundice and cholelithiasis[]
    • There is a history of bilirubin cholelithiasis.[]
    • Affected individuals may also exhibit leg ulcers, gallstones (cholelithiasis), and folic acid deficiency.[]
    • Vasavda N, Menzel S, Kondaveeti S, Maytham E, Awogbade M, et al. (2007) The linear effects of alpha-thalassemia, the UGT1A1 and HMOX1 polymoprphisms on cholelithiasis in sickle cell disease.[]
    • In some patients, it may also be associated with polyhydramnios and placental edema.[]
    • Hb Bart hydrops fetalis (Hb Bart) syndrome, resulting from all four alpha globin genes being nonfunctional, is the most severe form and is characterized by fetal onset of generalized edema, pleural and pericardial effusions, severe hypochromic anemia,[]
    • The mother develops symptoms that are similar to pre-eclampsia, such as vomiting, hypertension, peripheral edema (swelling of the hands and feet), proteinuria (protein in the urine), and pulmonary edema (fluid in the lungs).[]
    • These babies can have other complications associated with hydrops, such as heart failure and pulmonary edema.[]
    • Red cells contain gamma-globin tetramers (Hb Bart) which are ineffective at delivering oxygen to tissues, causing anoxia, edema, hepatosplenomegaly.[]
    Iron Deficiency
    • Serum iron and serum ferritin can be used to exclude iron-deficiency anaemia.[]
    • Iron deficiency should be verified through iron studies in people with alpha thalassemia.[]
    • Differentiation of iron deficiency from thalassaemia trait.[]
    • Since this is also the case with iron deficiency and this condition is more frequent in practice, one should consider minor thalassemia when confronted with a non-confirmed iron deficiency anemia.[]
    Iron Deficiency Anemia
    • Concerning differential diagnoses, thalassemia must not be confused with iron deficiency anemia since iron substitution in the case of thalassemia falsely diagnosed as iron deficiency anemia leads to increased hemosiderosis.[]
    • FEP (free-erythrocyte protoporphyrin) and ferritin - to exclude iron deficiency anemia.[]
    • deficiency anemia All of these studies can be performed from a single blood sample.[]
    • Differential diagnosis Differential diagnosis should include iron deficiency anemia and defects in heme synthesis.[]
    • Malaria has been a scourge for thousands of years.[]
    • These disorders in the heterozygous state act as malaria resistance genes and influence the susceptibility to Plasmodium falciparum malaria.[]
    • Usually it is found in regions where malaria is endemic.[]
    • In terms of epidemiology, worldwide distribution of inherited alpha-thalassemia corresponds to areas of malaria exposure, suggesting a protective role.[]
    • Alpha thalassemia is common throughout parts of the world where malaria is endemic.[]
    Microcytic Anemia
    • The reduced total hemoglobin production yields the classic microcytic anemia of thalassemia.[]
    • Alpha thalassemia intermedia, or HbH disease, causes microcytic anemia, hemolysis, and splenomegaly.[]
    • Alpha (0) thalassemia (trait): Mutation of both alpha2 globin genes, or deletion of alpha1 and alpha2 globin genes in cis (-α/-α;--/αα); mild microcytic anemia possible.[]
    • […] homozygous form is called t. major and the heterozygous form is called t. minor. thalassemia ma jor the homozygous form of β-thalassemia , in which hemoglobin A is completely absent; it appears in the newborn period and is marked by hemolytic, hypochromic, microcytic[]
    • During pregnancy, the microcytic anemia can be mistaken for anemia of pregnancy.[]
    Plasmodium Falciparum Malaria
    • These disorders in the heterozygous state act as malaria resistance genes and influence the susceptibility to Plasmodium falciparum malaria.[]
    • Individually, HbS and α-thalassemia, are protective against severe Plasmodium falciparum malaria, but, there is a possible negative epistasis between α-thalassaemia and sickle cell trait which can modulate the inter population variation [2] .[]
    Severe Anemia
    Sickle Cell Disease
    • Only one individual was found with sickle cell disease.[]
    • Steinberg MH, Sebastiani P (2012) Genetic modifiers of sickle cell disease.[]
    • We have evaluated the effect of alpha-globin gene number on several interrelated properties of sickle erythrocytes (RBC) that are expected to correlate with the hemolytic and rheologic consequences of sickle cell disease.[]
    • Sickle cell disease is another kind of genetic blood disorder (NICE 2008) .[]
    • If no beta globin is produced, the clinical picture is similar to sickle cell disease but with even worse baseline anemia.[]
    • Hematology An inherited condition caused by a defect in the synthesis of the Hb α chain; Hb Barts hemoglobinopathy is characterized by the presence of 4 gamma chains; it is more common in southeast Asians; the most severe form of alpha thalassemia causes stillbirth[]
    • Risk factors for thalassemia include: Asian, Chinese, Mediterranean, or African American ethnicity Family history of the disorder The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages[]
    • Symptoms: The most severe form of alpha thalassemia causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy).[]
    • Most pregnancies resulted in stillbirth or in severely ill newborns who pass away shortly after birth.[]
    • It most commonly presents with stillbirth.[]
    Transfusion Reaction
    • Transfusions: Regular blood transfusions to ensure non-anemic states and prevent some of the disease complications (Target Hb 90-100 g/L) Leukodepletion techniques are used to ensure less alloimmunization and non-hemolytic transfusion reactions.[]
    • Individuals can develop reactions to certain proteins in the blood, called a transfusion reaction.[]
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  • Etiology

    Alpha thalassemia is a group of genetic conditions. The primary abnormality that leads to the particular genotype includes deletions of the alpha globin genes, or deletions of the non-coding DNA that regulates their transcription (regulatory elements) and may be found either on the same chromosome or on a different one. Deletion, however, is not the only type of mutation that can lead to alpha thalassemic syndromes: nonsensical mutations, frame shifts, point mutations and chain termination mutations have been detected, which can also be located in the regions adjacent to the alpha globin gene. The editing of the nascent pre-messenger RNA transcript (splicing) may be subsequently impaired, the initiation of mRNA translation may be prevented and various other disruptions can result in alpha thalassemic anemia [1].


    Countries located in the tropical zones and adjacent regions display a high prevalence of alpha thalassemia, with the population carrying the gene at a rate of nearly 90% in some occasions. Specifically, the subcategory of HbH disease is most commonly observed in Southeast Asia, the Mediterranean and the Middle East, whereas hydrops fetalis is most prevalent in Southeast Asia. It is believed that the simultaneous high frequency of alpha thalassemia in tropical regions is a result of the natural selection process: the mutation offers some protection against malaria, also prevalent in those locations, and it has been selected during the evolution process, because it enhances the individuals' prospects of survival. Migration and the subsequent redistribution of the world's population have led to the presence of alpha thalassemia in regions of America or North Europe [5].

    Sex distribution
    Age distribution


    Alpha thalassemia is a direct result of diminished alpha-chain production. The excessive amounts of beta chains lead to a lack of molecular stability and to an insoluble hemoglobin compound that forms Heinz bodies within the cell (insoluble inclusions). Heinz bodies exert further pressure and damage the membrane of the red blood cells. Due to the red blood cells' inability to produce adequate amounts of fully functional hemoglobin, the cells are hypochromic and relatively smaller in size, when compared with healthy red cells [5]. Depending on the result of the genetic mutation, the following alpha thalassemic syndromes have been described:

    • Alpha (0) thalassemia
    • Alpha (+) thalassemia
    • Silent carrier
    • Trait of alpha thalassemia
    • Hemoglobin H disease (HbH)

    Alpha(0) thalassemia

    Alpha (0) thalassemia is a subcategory of alpha thalassemia, involving the complete dysfunction of both genes encoding for the alpha globin (--/--). A patient with this genetic abnormality does not have the ability to synthesize any of the hemoglobin types and usually dies before birth or shortly after. It is the most severe type of alpha thalassemia and is otherwise referred to as hydrops fetalis or hemoglobin Bart's. Currently, over twenty different mutations have been discovered, that account for alpha (0) thalassemia. 

    Alpha(+) thalassemia

    Alpha (+) thalassemia is a wider category of disease type and encompasses the silent carrier, alpha thalassemia trait and hemoglobin H types. Patients display diminished production of alpha globin, but possess at least one functional alpha gene.

    The silent carrier type is the mildest form of alpha (+) thalassemia. The patients possess three functional alpha genes (-α/αα) and in the majority of the cases exhibit no abnormal findings in a standard blood test. The mean corpuscular volume (MVC) and mean corpuscular hemoglobin (MCH) might be slightly affected sometimes.

    On the other hand, patients with the trait of alpha thalassemia possess two functional alpha genes, either in the pattern of (-α/-α) or (--/αα). Patients suffer from mild anemia, with a red blood count greater than 5.5 x 1012/L. Their MCH and MCV are also affected.

    Finally, the most severe type of alpha (+) thalassemia is the HbH disease (Hemoglobin H disease. Patients have one functional alpha gene (-α/--); as a result, the beta globin chains greatly predominate is the structure of the red blood cells and these beta chains are conjoined in masses. This type of abnormal hemoglobin constitutes up to 1/3 of the total hemoglobin of the patient. Hemolytic phenomena are common when oxidative agents (e.g sulfonamide) are administered to these patients, due to the erythrocytes' increased sensitivity. Furthermore, the conjunction of HbH increases as the erythrocytes age: this results in their early destruction, as they are recognized as dysfunctional, and the subsequent hemolysis is the predominant finding.


    Alpha thalassemia can be diagnosed prenatally. The test is carried out if the pregnancy occurs in a family with a prior history of alpha thalassemia or if the parents belong to an ethnic group with a high disease prevalence. The diagnosis of HbH disease cannot be accurately made before birth; however, neonatal screening allows for the detection of elevated levels of hemoglobin Bart's after birth [12] [13]. 


    In the human organism, blood is responsible for carrying oxygenized molecules to the tissues so that they can remain functional and viable. Oxygen is transported to every region of the body via the red blood cells, which contain hemoglobin, a metalloprotein capable of binding with oxygen molecules.

    Hemoglobin consists of a heme molecule and four globin chains. There are four types of globin chains, the alpha (α), beta (β), gamma (γ) and delta (δ) chains. Depending on the type of chains a particular hemoglobin is made of, the molecule presents with 3 forms:

    • Hemoglobin A. It is the primary counterpart in adult individuals and consists of two alpha and two beta chains.
    • Hemoglobin F. It is primarily found in fetal blood and consists of two alpha and two gamma chains. Its concentration is extremely reduced in the adult population.
    • Hemoglobin A2, containing two alpha and two delta chains.

    Patients affected by alpha thalassemia display a distorted production of alpha chains, which are contained in all three types of hemoglobin molecules. Alpha chains are reduced and beta chains dominate, leading to decreased molecular stability and anemic symptoms.

    Alpha thalassemia syndromes exhibit a higher prevalence in individuals born in the Mediterranean region, Asia and the Middle East. A single gene accounts for the disruption of the production of the alpha chains; various mutations or deletions are responsible for the condition. An interesting fact is that the thalassemic, impaired structure of the red blood cells offers some protection against malaria; as a result, populations with a high prevalence of malaria appear to exhibit higher rates of alpha thalassemia. This is viewed as a result of the natural selection process [1] [2] [3] [4]. 

    Patient Information

    Alpha thalassemia is a disease that affects a compound found in the red blood cells, called haemoglobin. Haemoglobin is the element responsible for carrying oxygen to the organs and tissue in order to keep them functional and living. Patients with alpha thalassemia inherit the disease from their parents and exhibit an abnormal haemoglobin structure, that is unable to carry enough oxygen with the blood. Not every patient with alpha thalassemia is equally affected by the disease, however. The degree of haemoglobin abnormality dictates the severity of the symptoms caused: if a patient has only a small amount of abnormal haemoglobin, they may exhibit no symptoms whatsoever; embryos with no normal haemoglobin, on the other hand, may be stillborn or not even survive until birth. 

    Alpha thalassemia is a disease that specifically causes the diminished production of the alpha globin chains, which are a part of the total of the haemoglobin chains. Beta thalassemia is another similar condition, that affects the other chain types, the beta chains. The disease is mostly found in the Mediterranean region, Asia and Africa.   

    There are various types of alpha thalassemia, depending on the percentage of the missing alpha chains. Silent carriers only carry a thalassemia gene, but compose adequate functional haemoglobin and, as a result, have no anemic symptoms. Individuals with HbH disease or hydrops fetalis, both alpha-thalassemia subcategories, experience severe medical problems. Fetuses with hydrops fetalis produce no normal haemoglobin and may not survive to birth and patients with HbH require transfusions in order to survive.

    Thalassemia can be diagnosed with blood laboratory testing. Prenatal tests are available for parents with a family history of thalassemia or inhabitants of regions where the disease is frequently diagnosed. Neonates may also be screened for alpha thalassemia shortly after birth.


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    • His is deleted, but not that adjacent to the gene for HbG-alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia - LE Lie-Injo, AM Dozy, YW Kan, M Lopes - , 1979 -
    • Trial of the Effectiveness of ζ-Globin Enzyme-Linked Immunosorbent Assay and Hemoglobin H Inclusion Body Screening for the Detection of α0-Thalassemia Trait - JD Lafferty, DS Barth, BL Sheridan - American journal of , 2008 -
    • A family with segregating triplicated alpha globin loci and beta thalassemia - R Galanello, R Ruggeri, E Paglietti - , 1983 -
    • Alpha thalassemia and stroke risk in sickle cell anemia - RJ Adams, A Kutlar, V McKie, E Carl - American journal of , 2006 - Wiley Online Library

    Media References

    1. Thalassemia alpha, Public Domain