血红蛋白 H 病 (HbH) 病属于非输血依赖性地中海贫血组。 HbH 疾病通常由三个 α-珠蛋白等位基因失活导致 Hb 的 α-珠蛋白链产生不足，并形成 β-4 四聚体 (HbH)。 HbH四聚体对氧具有高亲和力，并且高度不稳定，沉淀为在成熟红细胞中占主导地位的有毒亨氏体，导致过早溶血而不是无效红细胞生成。 它在氧化应激下增加，这解释了与感染或摄入氧化剂药物相关的高溶血。 该疾病通常是由任一 α 球蛋白基因（HBA1和HBA2 ）中的复合杂合或纯合变异引起的; 16p13.3），伴随 …

Hemoglobin H disease, also called alpha-thalassemia intermedia, is a disease affecting hemoglobin, the oxygen carrying molecule within red blood cells. It is a form of Alpha-thalassemia which most commonly occurs due to deletion of 3 out of 4 of the α-globin genes. [1]

Hemoglobin H disease is named for the abnormal hemoglobin H (created by the remaining beta globin) that destroys red blood cells. Alpha-thalassemia is an inherited blood disorder that reduces the body’s production of hemoglobin. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications.

Individuals with deletional HbH disease usually have mild asymptomatic anaemia that remains unsuspected in many cases until an incidental laboratory finding of anaemia prompts diagnostic workup. The clinical expression of haemoglobin H (HbH) disease extends from mild asymptomatic anaemia to severe anaemia with transfusion-dependence and hydrops ...

In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by Chui et al., 2003). Hb H disease is usually caused by the combination of alpha (0)-thalassemia with deletional alpha (+)-thalassemia, a combination referred to as 'deletional' Hb H disease.

2011年2月24日 · We analyzed longitudinal clinical data for patients with hemoglobin H disease arising from the deletion of three of four α-globin genes (HbH) and from hemoglobin H Constant Spring (HCS), caused...

2023年8月29日 · Background: Hemoglobin H disease (HbH), a hemoglobinopathy resulting from abnormal alpha globin genes, is classified into two categories: deletional HbH (DHbH) and non-deletional HbH (NDHbH)....

Hemoglobin H Disease is a condition that is commonly found in Southeast Asia and around the Mediterranean, but rarely in those of African descent. It is characterized by a low level of hemoglobin in the blood and mild symptoms such as enlarged liver and spleen. You might find these chapters and articles relevant to this topic.

2018年9月6日 · 珠蛋白生成障碍性贫血（thalassemia），即地中海贫血（简称地贫），是由于基因缺陷导致血红蛋白中一种或一种以上珠蛋白肽链合成缺如或不足所发生的遗传性溶血性贫血。 其发病呈世界性分布，以α和β地中海贫血较常见，多见于地中海、中东、东南亚地区；在我国以西南和华南为该病高发区域，而北方的地中海贫血患者少见。 近期我们依据血常规检验数据和血红蛋白H包涵体实验准确判断一例发生于我国北方的地中海贫血患儿。 女性患儿，3岁，保定博野县 …

HbH (a-/--) is carried by patients with an intermediate severity of clinical symptoms and hematological phenotype, known as hemoglobinopathy H (HbH). These individuals have inherited only one functional α-globin gene (α-/--).