Hb H disease: clinical course and disease modifiers.
Hb H disease: clinical course and disease modifiers.
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DOI：
10.1182/asheducation-2009.1.26
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发表时间：
2009-01-01
期刊：
影响因子：
--
通讯作者：
Viprakasit, Vip
中科院分区：
文献类型：
--
作者：
Fucharoen, Suthat;Viprakasit, Vip
血红蛋白H（Hb H）疾病是中间型地中海贫血最常见的形式，有许多特点，需要在管理中仔细考虑。在大多数情况下，Hb H疾病由α（0）-地中海贫血的双重杂合性引起，所述双重杂合性是由于去除16号染色体上的两个连锁α-珠蛋白基因的缺失，以及由单个α-珠蛋白基因缺失（--/-α）引起的缺失性α（+）-地中海贫血。然而，Hb H疾病可能由α（0）-地中海贫血与非缺失突变（α（T）α或α（T））或与异常血红蛋白如Hb恒定弹簧、Hb Pakse、Hb Quong Sze和Hb Pak Pak Po之间的相互作用而发生。在稳定状态下，Hb H疾病患者的血红蛋白水平约为9至10 g/dL;然而，在溶血危象期间，经常在高热急性感染中或之后发生，血红蛋白水平可能显著下降，患者可能发生休克或肾功能衰竭。尽管脾切除术导致血红蛋白水平显著升高，但不推荐，因为大多数患者在所述稳态血红蛋白水平下表现良好。非缺失型Hb H疾病患者通常贫血程度更高，伴有显著的脾肿大，有些患者可能需要定期输血，甚至严重到“Hb H胎儿水肿”。“然而，没有明确的基因型-表型相关性与这种严重的临床综合征，因为具有相同基因型的患者不一定表现出相同的严重程度。这表明其他遗传和环境因素在改变非缺失型Hb H疾病患者的临床严重程度中发挥作用。
Hemoglobin H (Hb H) disease is the most common form of thalassemia intermedia and has many features that require careful consideration in management. In the majority of cases, Hb H disease results from double heterozygosity for alpha(0)-thalassemia due to deletions that remove both linked alpha-globin genes on chromosome 16, and deletional alpha(+)-thalassemia from single alpha-globin gene deletions (--/-alpha). However, Hb H disease may occur from interactions between alpha(0)-thalassemia with non-deletional mutations (alpha(T)alpha or alpha(T)) or with abnormal hemoglobins such as Hb Constant Spring, Hb Pakse, Hb Quong Sze, and Hb Pak Num Po. In a steady state, patients with Hb H diseases have hemoglobin levels around 9 to 10 g/dL; however, during hemolytic crisis, which frequently develops in or after acute infections with high fever, the hemoglobin level may drop significantly and patients can develop shock or renal shutdown. Even though splenectomy leads to significant elevation of hemoglobin levels, it is not recommended because the majority of patients do well with said steady-state hemoglobin levels. Patients with non-deletional Hb H disease are usually more anemic with significant splenomegaly, and some may require regular blood transfusions and be even as severe as "Hb H hydrops fetalis." However, there is no clear genotype-phenotype correlation associated with this severe clinical syndrome since patients with identical genotypes do not necessary show the same severity. This suggests that other genetic and environmental factors play a role in modifying the degree of clinical severity in patients with non-deletional Hb H disease.